G13V (p.Gly13Val) variant of KRAS (GTPase KRas)
G13V (p.Gly13Val) in KRAS (GTPase KRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Non-small cell lung carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes experimental measurements, published literature, and structural context.
G13V (p.Gly13Val) variant details
- p.Gly13Val
- rs112445441
- ClinGen CA135573
- NCI-TCGA Cosmic COSV5549
- Pathogenic
- Non-small cell lung carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- AlphaMissense 0.96
- MetaLR 0.51
- MetaSVM 0.08
- PolyPhen-2 0.56
- SIFT 0.02
- EVE 0.24
- ClinVar: Pathogenic (Non-small cell lung carcinoma)
- EBI: Pathogenic (in pylocytic astrocytoma)
- UniProt: Pathogenic (in pylocytic astrocytoma)
- Structural context available
- abundance fitness from abundancePCA of KRAS block1: score -0.346
- Cited in: Guideline Recommendations for EGFR Mutation Testing in Lung Cancer: Proposal of the Korean Cardiopulmonary Pathology… (PMID 23667368)
- Cited in: Guideline Recommendations for Testing of ALK Gene Rearrangement in Lung Cancer: A Proposal of the Korean… (PMID 24627688)