G12W (p.Gly12Trp) variant of CBL (E3 ubiquitin-protein ligase CBL)
G12W (p.Gly12Trp) 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, and structural context.
G12W (p.Gly12Trp) variant details
- p.Gly12Trp
- gnomAD rs866162034
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.29
- MetaLR 0.19
- MetaSVM -0.74
- CADD 24.10
- PolyPhen-2 0.42
- SIFT 0.00
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.637