G28S (p.Gly28Ser) variant of BRAF (P15056)
G28S (p.Gly28Ser) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G28S (p.Gly28Ser) variant details
- p.Gly28Ser
- rs1437317949
- ClinGen CA369590133
- ClinVar RCV002223088
- gnomAD rs1437317949
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- AlphaMissense 0.10
- MetaLR 0.18
- MetaSVM -0.85
- CADD 18.80
- PolyPhen-2 0.12
- SIFT 0.27
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.76