G12E (p.Gly12Glu) variant of CBL (E3 ubiquitin-protein ligase CBL)
G12E (p.Gly12Glu) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G12E (p.Gly12Glu) variant details
- p.Gly12Glu
- gnomAD 11-119206452-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.30
- CADD 21.10
- PolyPhen-2 0.05
- SIFT 0.11
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.637
- Literature evidence available