V600G (p.Val600Gly) variant of BRAF (P15056)
V600G (p.Val600Gly) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
V600G (p.Val600Gly) variant details
- p.Val600Gly
- rs113488022
- ClinGen CA281998
- NCI-TCGA Cosmic COSV5605
- NCI-TCGA Cosmic COSV5606
- Pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- AlphaMissense 0.96
- MetaLR 0.37
- MetaSVM -0.37
- PolyPhen-2 0.82
- EVE 0.60
- MutPred 0.75
- ClinVar: Pathogenic (RASopathy)
- EBI: Pathogenic (in CRC)
- UniProt: Pathogenic (in CRC)
- Structural context available
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)