A81V (p.Ala81Val) variant of BRAF (P15056)
A81V (p.Ala81Val) 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 0.66 / 1. The record also includes population frequency data and structural context.
A81V (p.Ala81Val) variant details
- p.Ala81Val
- rs1371538157
- ClinGen CA369593970
- ClinVar RCV003654553
- gnomAD rs1371538157
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- MetaLR 0.35
- MetaSVM -0.28
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available