G21R (p.Gly21Arg) variant of BRAF (P15056)
G21R (p.Gly21Arg) 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 0.55 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G21R (p.Gly21Arg) variant details
- p.Gly21Arg
- rs587778113
- ClinGen CA157468
- ClinVar RCV000120255
- TOPMed rs587778113
- Uncertain significance
- not provided; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- MetaLR 0.44
- MetaSVM -0.44
- CADD 26.20
- PolyPhen-2 0.95
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.0089