G10V (p.Gly10Val) variant of CBL (E3 ubiquitin-protein ligase CBL)
G10V (p.Gly10Val) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G10V (p.Gly10Val) variant details
- p.Gly10Val
- gnomAD 11-119206446-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.38
- CADD 25.10
- PolyPhen-2 0.54
- SIFT 0.03
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.0267
- Literature evidence available