G12G (p.Gly12Gly) variant of CBL (E3 ubiquitin-protein ligase CBL)
G12G (p.Gly12Gly) in CBL (E3 ubiquitin-protein ligase CBL) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G12G (p.Gly12Gly) variant details
- p.Gly12Gly
- gnomAD 11-119206453-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.273
- CADD 12.30
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.637
- Literature evidence available