A27G (p.Ala27Gly) variant of BRAF (P15056)
A27G (p.Ala27Gly) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A27G (p.Ala27Gly) variant details
- p.Ala27Gly
- rs1206505128
- ClinGen CA369590137
- ClinVar RCV002419475
- ClinVar RCV003539434
- Uncertain significance
- Cardiovascular phenotype; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- MetaLR 0.25
- MetaSVM -0.71
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (Cardiovascular phenotype; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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 -0.148