K30* (p.Lys30Ter) variant of CBL (E3 ubiquitin-protein ligase CBL)
K30* (p.Lys30Ter) in CBL (E3 ubiquitin-protein ligase CBL) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K30* (p.Lys30Ter) variant details
- p.Lys30Ter
- gnomAD 11-119206505-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.59
- CADD 37.00
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.909
- Literature evidence available