G18W (p.Gly18Trp) variant of CBL (E3 ubiquitin-protein ligase CBL)
G18W (p.Gly18Trp) 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.
G18W (p.Gly18Trp) variant details
- p.Gly18Trp
- gnomAD 11-119206469-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.33
- CADD 25.40
- PolyPhen-2 0.55
- SIFT 0.00
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.122
- Literature evidence available