V471F (p.Val471Phe) variant of BRAF (P15056)
V471F (p.Val471Phe) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; RASopathy; Ataxia-telangiectasia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
V471F (p.Val471Phe) variant details
- p.Val471Phe
- rs121913376
- ClinGen CA281968
- cosmic curated COSV56229
- ClinVar RCV000033308
- Pathogenic/Likely pathogenic
- not provided; RASopathy; Ataxia-telangiectasia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- AlphaMissense 0.92
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 0.33
- SIFT 0.01
- EVE 0.71
- ClinVar: Pathogenic/Likely pathogenic (not provided; RASopathy; Ataxia-telangiectasia syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)