F22L (p.Phe22Leu) variant of RAF1 (P04049)
F22L (p.Phe22Leu) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, and structural context.
F22L (p.Phe22Leu) variant details
- p.Phe22Leu
- rs397516824
- ClinGen CA134746
- cosmic curated COSV52584
- ClinVar RCV000037696
- Likely benign
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- AlphaMissense 0.53
- MetaLR 0.21
- MetaSVM -0.91
- PolyPhen-2 0.06
- SIFT 0.02
- MutPred 0.37
- ClinVar: Likely benign (RASopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score 0.0175