S8T (p.Ser8Thr) variant of CBL (E3 ubiquitin-protein ligase CBL)
S8T (p.Ser8Thr) 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 0.33 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S8T (p.Ser8Thr) variant details
- p.Ser8Thr
- TOPMed rs930860175
- gnomAD rs930860175
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.16
- AlphaMissense 0.67
- MetaLR 0.47
- MetaSVM -0.09
- CADD 22.90
- PolyPhen-2 0.96
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.779