G12C (p.Gly12Cys) variant of KRAS (GTPase KRas)
G12C (p.Gly12Cys) in KRAS (GTPase KRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G12C (p.Gly12Cys) variant details
- p.Gly12Cys
- rs121913530
- ClinGen CA122528
- cosmic curated COSV55497
- ClinVar RCV000013406
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- AlphaMissense 1.00
- MetaLR 0.70
- MetaSVM 0.55
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.45
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in lung carcinoma)
- UniProt: Pathogenic (in lung carcinoma)
- Population evidence available
- Structural context available
- abundance fitness from abundancePCA of KRAS block1: score -0.217
- Cited in: Cigarette smoking is strongly associated with mutation of the K-ras gene in patients with primary adenocarcinoma of the… (PMID 11745231)
- Cited in: Distinct epidermal growth factor receptor and KRAS mutation patterns in non-small cell lung cancer patients with… (PMID 16533793)