A31V (p.Ala31Val) variant of BRAF (P15056)
A31V (p.Ala31Val) 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 0.27 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A31V (p.Ala31Val) variant details
- p.Ala31Val
- rs397516906
- ClinGen CA168218528
- ClinVar RCV001877927
- TOPMed rs397516906
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- MetaLR 0.17
- MetaSVM -0.94
- CADD 21.50
- PolyPhen-2 0.05
- SIFT 0.14
- ClinVar: Uncertain significance (RASopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.17