G19C (p.Gly19Cys) variant of CBL (E3 ubiquitin-protein ligase CBL)
G19C (p.Gly19Cys) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G19C (p.Gly19Cys) variant details
- p.Gly19Cys
- gnomAD 11-119206472-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.23
- AlphaMissense 0.10
- MetaLR 0.30
- MetaSVM -0.74
- CADD 25.80
- PolyPhen-2 0.02
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.525
- Literature evidence available