A91V (p.Ala91Val) variant of BRAF (P15056)
A91V (p.Ala91Val) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
A91V (p.Ala91Val) variant details
- p.Ala91Val
- rs886041256
- ClinGen CA10603007
- cosmic curated COSV56137
- ClinVar RCV000278430
- Uncertain significance
- RASopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- MetaLR 0.25
- MetaSVM -0.69
- CADD 22.50
- PolyPhen-2 0.34
- SIFT 0.00
- ClinVar: Uncertain significance (RASopathy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available