S36A (p.Ser36Ala) variant of BRAF (P15056)
S36A (p.Ser36Ala) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes experimental measurements and structural context.
S36A (p.Ser36Ala) variant details
- p.Ser36Ala
- rs2129153192
- ClinGen CA369590088
- ClinVar RCV002413258
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- AlphaMissense 0.09
- MetaLR 0.19
- MetaSVM -0.77
- PolyPhen-2 0.07
- SIFT 0.49
- MutPred 0.23
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.0277