MAP2K1 F53C

c.158T>G NM_002755.4 RAS-MAPK transversion, gain of function

Cancer hotspot Recurrent missense variant. COSMIC COSV61068705, COSV61070226

Population · gnomAD Not observed Absent from the population database, consistent with a somatic, non-inherited driver.

ClinVar Not in ClinVar no exact-match submission

Protein region N-terminal regulatory region Residue 53 of MAP2K1. UniProt Q02750

AlphaMissense likely pathogenic Pathogenicity score 1.00. Computational prediction, not clinical evidence.

Position in MAP2K1 1 catalogued

ISSVA subset	Allele fraction	Sources
CCLA	gDNA (leftover cells): 0.66-0.83%; cfDNA (thoracic duct): 9.8-12.4%	PMID37264205

Driver of the RAS-MAPK pathway. Repurposed drugs already used in the clinic for this pathway: trametinib and other MEK inhibitors.

Genomic profiling informs diagnoses and treatment in vascular anomalies.
Li D, Sheppard SE, March ME, Battig MR, Surrey LF, Srinivasan AS, Matsuoka LS, Tian L, Wang F, Seiler C, Dayneka J, Borst AJ, Matos MC, Paulissen SM, Krishnamurthy G, Nriagu B, Sikder T, Casey M, Williams L, Rangu S, O'Connor N, Thomas A, Pinto E, Hou C, Nguyen K, Pellegrino da Silva R, Chehimi SN, Kao C, Biroc L, Britt AD, Queenan M, Reid JR, Napoli JA, Low DM, Vatsky S, Treat J, Smith CL, Cahill AM, Snyder KM, Adams DM, Dori Y, Hakonarson H. · Nat Med · 2023

Mentioned in 5 publications indexed by Europe PMC.