S36F (p.Ser36Phe) variant of BRAF (P15056)
S36F (p.Ser36Phe) 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; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S36F (p.Ser36Phe) variant details
- p.Ser36Phe
- rs886041827
- ClinGen CA10603031
- cosmic curated COSV10730
- ClinVar RCV000350213
- Uncertain significance
- not provided; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- MetaLR 0.18
- MetaSVM -0.75
- CADD 20.80
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (not provided; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.0277