A27V (p.Ala27Val) variant of BRAF (P15056)
A27V (p.Ala27Val) 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 0.47 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A27V (p.Ala27Val) variant details
- p.Ala27Val
- rs1206505128
- ClinGen CA369590136
- ClinVar RCV001948062
- TOPMed rs1206505128
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- MetaLR 0.27
- MetaSVM -0.67
- CADD 23.90
- PolyPhen-2 0.07
- SIFT 0.05
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.148