G30C (p.Gly30Cys) variant of BRAF (P15056)
G30C (p.Gly30Cys) 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 0.35 / 1. The record also includes experimental measurements and structural context.
G30C (p.Gly30Cys) variant details
- p.Gly30Cys
- rs2129153267
- ClinGen CA369590121
- ClinVar RCV003655995
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- AlphaMissense 0.39
- MetaLR 0.17
- MetaSVM -0.90
- PolyPhen-2 0.00
- SIFT 0.25
- MutPred 0.24
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.156