D22Y (p.Asp22Tyr) variant of BRAF (P15056)
D22Y (p.Asp22Tyr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes experimental measurements and structural context.
D22Y (p.Asp22Tyr) variant details
- p.Asp22Tyr
- rs397507456
- ClinGen CA369590169
- ClinVar RCV002364137
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- AlphaMissense 0.50
- MetaLR 0.31
- MetaSVM -0.70
- PolyPhen-2 0.81
- SIFT 0.20
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.13