Q34* (p.Gln34Ter) variant of CBL (E3 ubiquitin-protein ligase CBL)
Q34* (p.Gln34Ter) in CBL (E3 ubiquitin-protein ligase CBL) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q34* (p.Gln34Ter) variant details
- p.Gln34Ter
- gnomAD 11-119206517-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.811
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score 0.0479
- Literature evidence available