G23V (p.Gly23Val) variant of CBL (E3 ubiquitin-protein ligase CBL)
G23V (p.Gly23Val) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G23V (p.Gly23Val) variant details
- p.Gly23Val
- gnomAD 11-119206485-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.21
- AlphaMissense 0.17
- MetaLR 0.29
- MetaSVM -0.68
- CADD 23.20
- PolyPhen-2 0.59
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.406
- Literature evidence available