G32S (p.Gly32Ser) variant of BRAF (P15056)
G32S (p.Gly32Ser) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G32S (p.Gly32Ser) variant details
- p.Gly32Ser
- rs1325363555
- ClinGen CA369590113
- ClinVar RCV003654575
- ClinVar RCV005522886
- Uncertain significance
- RASopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- MetaLR 0.13
- MetaSVM -1.03
- CADD 20.80
- PolyPhen-2 0.01
- SIFT 0.35
- ClinVar: Uncertain significance (RASopathy; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.112