G12V (p.Gly12Val) variant of KRAS (GTPase KRas)
G12V (p.Gly12Val) 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; RASopathy; Linear nevus sebaceous syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G12V (p.Gly12Val) variant details
- p.Gly12Val
- rs121913529
- ClinGen CA122540
- cosmic curated COSV55497
- ClinVar RCV000013413
- Pathogenic
- not provided; RASopathy; Linear nevus sebaceous syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.91
- MetaLR 0.70
- MetaSVM 0.54
- CADD 25.80
- PolyPhen-2 0.96
- SIFT 0.03
- ClinVar: Pathogenic (not provided; RASopathy; Linear nevus sebaceous syndrome)
- EBI: Pathogenic (in GASC)
- UniProt: Pathogenic (in GASC)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- abundance fitness from abundancePCA of KRAS block1: score -0.217
- Cited in: BRAF and KRAS mutations in stomach cancer. (PMID 14534542)
- Cited in: Distinct epidermal growth factor receptor and KRAS mutation patterns in non-small cell lung cancer patients with… (PMID 16533793)