P25S (p.Pro25Ser) variant of BRAF (P15056)
P25S (p.Pro25Ser) 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 0.38 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P25S (p.Pro25Ser) variant details
- p.Pro25Ser
- rs730880412
- ClinGen CA295900
- ClinVar RCV004700490
- ClinVar RCV006461666
- Uncertain significance
- not provided; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- MetaLR 0.19
- MetaSVM -0.95
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (not provided; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -1.25