A12V (p.Ala12Val) variant of BRAF (P15056)
A12V (p.Ala12Val) 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 0.36 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- rs1818678707
- ClinGen CA369590229
- ClinVar RCV001887434
- gnomAD rs1818678707
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- MetaLR 0.23
- MetaSVM -0.82
- CADD 20.00
- PolyPhen-2 0.14
- SIFT 0.00
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.0056