D40A (p.Asp40Ala) variant of BRAF (P15056)
D40A (p.Asp40Ala) 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 0.62 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D40A (p.Asp40Ala) variant details
- p.Asp40Ala
- rs1818656083
- ClinGen CA369590067
- ClinVar RCV004226102
- Ensembl rs1818656083
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- MetaLR 0.23
- MetaSVM -0.79
- CADD 22.60
- PolyPhen-2 0.05
- SIFT 0.09
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score 0.0364