A39V (p.Ala39Val) variant of BRAF (P15056)
A39V (p.Ala39Val) in BRAF (P15056) is a missense change. Clinical records from ClinVar 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 0.43 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A39V (p.Ala39Val) variant details
- p.Ala39Val
- Ensembl rs2129153171
- Uncertain significance
- RASopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- MetaLR 0.17
- MetaSVM -0.87
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.19
- ClinVar: Uncertain significance (RASopathy; not provided)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.0013