A2G (p.Ala2Gly) variant of CBL (E3 ubiquitin-protein ligase CBL)
A2G (p.Ala2Gly) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A2G (p.Ala2Gly) variant details
- p.Ala2Gly
- gnomAD 11-119206422-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.25
- AlphaMissense 0.20
- MetaLR 0.29
- MetaSVM -0.66
- CADD 23.20
- PolyPhen-2 0.12
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.305
- Literature evidence available