P41S (p.Pro41Ser) variant of BRAF (P15056)
P41S (p.Pro41Ser) 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; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P41S (p.Pro41Ser) variant details
- p.Pro41Ser
- rs1389368234
- ClinGen CA369590062
- ClinVar RCV003230999
- ClinVar RCV006561267
- Uncertain significance
- not specified; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- MetaLR 0.20
- MetaSVM -0.79
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Uncertain significance (not specified; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.109