G18E (p.Gly18Glu) variant of CBL (E3 ubiquitin-protein ligase CBL)
G18E (p.Gly18Glu) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G18E (p.Gly18Glu) variant details
- p.Gly18Glu
- gnomAD 11-119206470-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.34
- CADD 23.20
- PolyPhen-2 0.05
- SIFT 0.02
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.122
- Literature evidence available