G24C (p.Gly24Cys) variant of CBL (E3 ubiquitin-protein ligase CBL)
G24C (p.Gly24Cys) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G24C (p.Gly24Cys) variant details
- p.Gly24Cys
- gnomAD 11-119206487-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.36
- CADD 26.60
- PolyPhen-2 0.67
- SIFT 0.00
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.672
- Literature evidence available