R41W (p.Arg41Trp) variant of RAF1 (P04049)
R41W (p.Arg41Trp) in RAF1 (P04049) 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 0.39 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R41W (p.Arg41Trp) variant details
- p.Arg41Trp
- rs1480507957
- ClinGen CA351485027
- NCI-TCGA Cosmic COSV5257
- cosmic curated COSV52577
- Uncertain significance
- not provided; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- AlphaMissense 0.54
- MetaLR 0.28
- MetaSVM -0.72
- PolyPhen-2 0.03
- SIFT 0.02
- MutPred 0.32
- ClinVar: Uncertain significance (not provided; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -1.03