G30S (p.Gly30Ser) variant of BRAF (P15056)
G30S (p.Gly30Ser) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G30S (p.Gly30Ser) variant details
- p.Gly30Ser
- rs2129153267
- ClinGen CA369590123
- ClinVar RCV003877622
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- AlphaMissense 0.39
- MetaLR 0.17
- MetaSVM -0.90
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- 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 -0.156