I28V (p.Ile28Val) variant of RAF1 (P04049)
I28V (p.Ile28Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I28V (p.Ile28Val) variant details
- p.Ile28Val
- rs1470487278
- ClinGen CA351485109
- ClinVar RCV004516289
- gnomAD rs1470487278
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- AlphaMissense 0.06
- MetaLR 0.20
- MetaSVM -0.85
- PolyPhen-2 0.00
- SIFT 0.42
- MutPred 0.24
- ClinVar: Uncertain significance (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 -1