G10R (p.Gly10Arg) variant of CBL (E3 ubiquitin-protein ligase CBL)
G10R (p.Gly10Arg) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G10R (p.Gly10Arg) variant details
- p.Gly10Arg
- gnomAD 11-119206445-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.36
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.09
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.0267
- Literature evidence available