G21C (p.Gly21Cys) variant of CBL (E3 ubiquitin-protein ligase CBL)
G21C (p.Gly21Cys) 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, published literature, and structural context.
G21C (p.Gly21Cys) variant details
- p.Gly21Cys
- gnomAD 11-119206478-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.29
- AlphaMissense 0.12
- MetaLR 0.26
- MetaSVM -0.87
- CADD 24.10
- PolyPhen-2 0.00
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.486
- Literature evidence available