V33I (p.Val33Ile) variant of RAF1 (P04049)
V33I (p.Val33Ile) 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 0.38 / 1. The record also includes experimental measurements and structural context.
V33I (p.Val33Ile) variant details
- p.Val33Ile
- rs1575600440
- ClinGen CA351485080
- ClinVar RCV000792633
- ClinVar RCV002386380
- Uncertain significance
- Cardiovascular phenotype; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- AlphaMissense 0.07
- MetaLR 0.26
- MetaSVM -0.78
- PolyPhen-2 0.05
- SIFT 0.46
- MutPred 0.24
- ClinVar: Uncertain significance (Cardiovascular phenotype; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.633