A42V (p.Ala42Val) variant of BRAF (P15056)
A42V (p.Ala42Val) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A42V (p.Ala42Val) variant details
- p.Ala42Val
- rs2129153147
- ClinGen CA369590052
- ClinVar RCV003540120
- Ensembl rs2129153147
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- MetaLR 0.20
- MetaSVM -0.79
- CADD 24.30
- PolyPhen-2 0.26
- SIFT 0.05
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.0468