G10S (p.Gly10Ser) variant of BRAF (P15056)
G10S (p.Gly10Ser) 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; RASopathy. 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.
G10S (p.Gly10Ser) variant details
- p.Gly10Ser
- rs1356557681
- ClinGen CA369590242
- ClinVar RCV001202388
- ClinVar RCV004033534
- Uncertain significance
- Cardiovascular phenotype; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- MetaLR 0.30
- MetaSVM -0.76
- CADD 22.60
- PolyPhen-2 0.12
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiovascular phenotype; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.69