T31A (p.Thr31Ala) variant of RAF1 (P04049)
T31A (p.Thr31Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T31A (p.Thr31Ala) variant details
- p.Thr31Ala
- rs1486365900
- ClinGen CA351485091
- ClinVar RCV001949003
- ClinVar RCV002370573
- Uncertain significance
- Cardiovascular phenotype; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- AlphaMissense 0.13
- MetaLR 0.28
- MetaSVM -0.45
- PolyPhen-2 0.85
- SIFT 0.01
- MutPred 0.26
- ClinVar: Uncertain significance (Cardiovascular phenotype; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.391