D22V (p.Asp22Val) variant of BRAF (P15056)
D22V (p.Asp22Val) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D22V (p.Asp22Val) variant details
- p.Asp22Val
- rs1414371670
- ClinGen CA369590166
- ClinVar RCV001924723
- ClinVar RCV004779170
- Uncertain significance
- not provided; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- MetaLR 0.37
- MetaSVM -0.57
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.13