A91G (p.Ala91Gly) variant of BRAF (P15056)
A91G (p.Ala91Gly) 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 0.60 / 1. The record also includes population frequency data and structural context.
A91G (p.Ala91Gly) variant details
- p.Ala91Gly
- rs886041256
- ClinGen CA369593902
- ClinVar RCV002033139
- Ensembl rs886041256
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- MetaLR 0.22
- MetaSVM -0.65
- CADD 22.30
- PolyPhen-2 0.25
- SIFT 0.00
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available