S9Y (p.Ser9Tyr) variant of CBL (E3 ubiquitin-protein ligase CBL)
S9Y (p.Ser9Tyr) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S9Y (p.Ser9Tyr) variant details
- p.Ser9Tyr
- ExAC rs772525018
- TOPMed rs772525018
- gnomAD rs772525018
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.44
- AlphaMissense 0.53
- MetaLR 0.48
- MetaSVM 0.03
- CADD 23.20
- PolyPhen-2 0.96
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.594