S26R (p.Ser26Arg) variant of RAF1 (P04049)
S26R (p.Ser26Arg) 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 0.43 / 1. The record also includes experimental measurements and structural context.
S26R (p.Ser26Arg) variant details
- p.Ser26Arg
- rs886041229
- ClinGen CA10602878
- ClinVar RCV000263568
- Ensembl rs886041229
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- AlphaMissense 0.41
- MetaLR 0.24
- MetaSVM -0.62
- PolyPhen-2 0.88
- SIFT 0.01
- MutPred 0.41
- 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 0.221