S9C (p.Ser9Cys) variant of CBL (E3 ubiquitin-protein ligase CBL)
S9C (p.Ser9Cys) 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 0.53 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S9C (p.Ser9Cys) variant details
- p.Ser9Cys
- ExAC rs772525018
- TOPMed rs772525018
- gnomAD rs772525018
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.42
- AlphaMissense 0.53
- MetaLR 0.39
- MetaSVM -0.14
- CADD 23.30
- PolyPhen-2 0.83
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.594