S20* (p.Ser20Ter) variant of CBL (E3 ubiquitin-protein ligase CBL)
S20* (p.Ser20Ter) in CBL (E3 ubiquitin-protein ligase CBL) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S20* (p.Ser20Ter) variant details
- p.Ser20Ter
- gnomAD 11-119206476-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.599
- CADD 36.00
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.898
- Literature evidence available