G466V (p.Gly466Val) variant of BRAF (P15056)
G466V (p.Gly466Val) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Non-small cell lung carcinoma; Lung adenocarcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G466V (p.Gly466Val) variant details
- p.Gly466Val
- rs121913351
- ClinGen CA123647
- NCI-TCGA Cosmic COSV5605
- cosmic curated COSV56057
- Pathogenic
- Non-small cell lung carcinoma; Lung adenocarcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.92
- PolyPhen-2 0.99
- EVE 0.72
- MutPred 0.98
- ClinVar: Pathogenic (Non-small cell lung carcinoma; Lung adenocarcinoma)
- EBI: Pathogenic (in LNCR)
- UniProt: Pathogenic (in LNCR)
- Population evidence available
- Structural context available
- Cited in: Mutations of the BRAF gene in human cancer. (PMID 12068308)
- Cited in: Missense mutations of the BRAF gene in human lung adenocarcinoma. (PMID 12460919)