G21V (p.Gly21Val) variant of CBL (E3 ubiquitin-protein ligase CBL)
G21V (p.Gly21Val) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G21V (p.Gly21Val) variant details
- p.Gly21Val
- gnomAD 11-119206479-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.21
- CADD 22.30
- PolyPhen-2 0.14
- SIFT 0.09
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.486
- Literature evidence available