G19G (p.Gly19Gly) variant of CBL (E3 ubiquitin-protein ligase CBL)
G19G (p.Gly19Gly) in CBL (E3 ubiquitin-protein ligase CBL) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G19G (p.Gly19Gly) variant details
- p.Gly19Gly
- gnomAD 11-119206474-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.336
- CADD 13.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.525
- Literature evidence available