F22C (p.Phe22Cys) variant of RAF1 (P04049)
F22C (p.Phe22Cys) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, and structural context.
F22C (p.Phe22Cys) variant details
- p.Phe22Cys
- rs2125453485
- ClinGen CA351485145
- ClinVar RCV001980310
- ClinVar RCV002370663
- Uncertain significance
- RASopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- AlphaMissense 0.15
- MetaLR 0.49
- MetaSVM 0.04
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.38
- ClinVar: Uncertain significance (RASopathy; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score 0.0175