F36V (p.Phe36Val) variant of RAF1 (P04049)
F36V (p.Phe36Val) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes experimental measurements and structural context.
F36V (p.Phe36Val) variant details
- p.Phe36Val
- rs2125453209
- ClinGen CA351485057
- ClinVar RCV001368161
- Ensembl rs2125453209
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- AlphaMissense 0.20
- MetaLR 0.26
- MetaSVM -0.71
- PolyPhen-2 0.17
- SIFT 0.03
- MutPred 0.26
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.167