G32R (p.Gly32Arg) variant of BRAF (P15056)
G32R (p.Gly32Arg) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of See cases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G32R (p.Gly32Arg) variant details
- p.Gly32Arg
- rs1325363555
- ClinGen CA369590112
- ClinVar RCV002252517
- TOPMed rs1325363555
- Uncertain significance
- See cases
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- MetaLR 0.17
- MetaSVM -0.95
- CADD 23.10
- PolyPhen-2 0.60
- SIFT 0.12
- ClinVar: Uncertain significance (See cases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.112