S36C (p.Ser36Cys) variant of BRAF (P15056)
S36C (p.Ser36Cys) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S36C (p.Ser36Cys) variant details
- p.Ser36Cys
- TOPMed rs886041827
- gnomAD rs886041827
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- MetaLR 0.17
- MetaSVM -0.79
- CADD 22.10
- PolyPhen-2 0.55
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.0277