G14R (p.Gly14Arg) variant of CBL (E3 ubiquitin-protein ligase CBL)
G14R (p.Gly14Arg) in CBL (E3 ubiquitin-protein ligase CBL) is a protein-truncating 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.
G14R (p.Gly14Arg) variant details
- p.Gly14Arg
- gnomAD 11-119206450-C-CG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.266
- CADD 26.10
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.365
- Literature evidence available