G28C (p.Gly28Cys) variant of BRAF (P15056)
G28C (p.Gly28Cys) 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 0.36 / 1. The record also includes experimental measurements and structural context.
G28C (p.Gly28Cys) variant details
- p.Gly28Cys
- rs1437317949
- ClinGen CA369590135
- ClinVar RCV002015356
- gnomAD rs1437317949
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- AlphaMissense 0.10
- MetaLR 0.18
- MetaSVM -0.85
- PolyPhen-2 0.12
- SIFT 0.27
- MutPred 0.18
- 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 -0.76