S22* (p.Ser22Ter) variant of CBL (E3 ubiquitin-protein ligase CBL)
S22* (p.Ser22Ter) 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.
S22* (p.Ser22Ter) variant details
- p.Ser22Ter
- gnomAD 11-119206482-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.586
- AlphaMissense 0.54
- MetaLR 0.25
- MetaSVM -0.82
- CADD 36.00
- PolyPhen-2 0.20
- SIFT 0.01
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score 0.256
- Literature evidence available