G18G (p.Gly18Gly) variant of CBL (E3 ubiquitin-protein ligase CBL)
G18G (p.Gly18Gly) in CBL (E3 ubiquitin-protein ligase CBL) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G18G (p.Gly18Gly) variant details
- p.Gly18Gly
- gnomAD 11-119206471-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.235
- CADD 11.80
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.122
- Literature evidence available