G7S (p.Gly7Ser) variant of BRAF (P15056)
G7S (p.Gly7Ser) in BRAF (P15056) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G7S (p.Gly7Ser) variant details
- p.Gly7Ser
- gnomAD rs1818685692
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- MetaLR 0.21
- MetaSVM -0.86
- CADD 22.30
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (RASopathy)
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.458