V21A (p.Val21Ala) variant of RAF1 (P04049)
V21A (p.Val21Ala) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; RASopathy. 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.
V21A (p.Val21Ala) variant details
- p.Val21Ala
- rs1306287046
- ClinGen CA351485152
- ClinVar RCV001361509
- ClinVar RCV002298937
- Uncertain significance
- not provided; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- AlphaMissense 0.09
- MetaLR 0.23
- MetaSVM -0.81
- PolyPhen-2 0.00
- SIFT 0.30
- MutPred 0.41
- ClinVar: Uncertain significance (not provided; 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 -0.709