G23D (p.Gly23Asp) variant of CBL (E3 ubiquitin-protein ligase CBL)
G23D (p.Gly23Asp) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G23D (p.Gly23Asp) variant details
- p.Gly23Asp
- Ensembl rs2135244064
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.28
- AlphaMissense 0.09
- MetaLR 0.25
- MetaSVM -0.93
- CADD 23.30
- PolyPhen-2 0.00
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.406