W8S (p.Trp8Ser) variant of RAF1 (P04049)
W8S (p.Trp8Ser) 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 0.51 / 1. The record also includes population frequency data, experimental measurements, and structural context.
W8S (p.Trp8Ser) variant details
- p.Trp8Ser
- rs780550449
- ClinGen CA2259852
- ClinVar RCV001236763
- ClinVar RCV002451570
- Uncertain significance
- RASopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- AlphaMissense 0.52
- MetaLR 0.44
- MetaSVM -0.11
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.64
- 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 -0.859