A35D (p.Ala35Asp) variant of BRAF (P15056)
A35D (p.Ala35Asp) 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 0.41 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A35D (p.Ala35Asp) variant details
- p.Ala35Asp
- rs1818660008
- ClinGen CA369590093
- ClinVar RCV003654494
- Ensembl rs1818660008
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- MetaLR 0.14
- MetaSVM -0.87
- CADD 22.40
- PolyPhen-2 0.13
- SIFT 0.01
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.0076