G14G (p.Gly14Gly) variant of CBL (E3 ubiquitin-protein ligase CBL)
G14G (p.Gly14Gly) in CBL (E3 ubiquitin-protein ligase CBL) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G14G (p.Gly14Gly) variant details
- p.Gly14Gly
- rs2135243980
- gnomAD 11-119206459-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.627
- CADD 10.50
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.365
- Literature evidence available