G24S (p.Gly24Ser) variant of RAF1 (P04049)
G24S (p.Gly24Ser) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; RASopathy; not provided. 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.
G24S (p.Gly24Ser) variant details
- p.Gly24Ser
- rs1019217338
- ClinGen CA69576989
- ClinVar RCV000681110
- ClinVar RCV001342547
- Uncertain significance
- Cardiovascular phenotype; RASopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- AlphaMissense 0.07
- MetaLR 0.26
- MetaSVM -0.80
- PolyPhen-2 0.03
- SIFT 0.18
- MutPred 0.33
- ClinVar: Uncertain significance (Cardiovascular phenotype; RASopathy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.592