A2V (p.Ala2Val) variant of CBL (E3 ubiquitin-protein ligase CBL)
A2V (p.Ala2Val) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- Ensembl rs1949268716
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.27
- AlphaMissense 0.34
- MetaLR 0.50
- MetaSVM -0.13
- CADD 23.20
- PolyPhen-2 0.98
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.305