S9T (p.Ser9Thr) variant of CBL (E3 ubiquitin-protein ligase CBL)
S9T (p.Ser9Thr) 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 0.28 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S9T (p.Ser9Thr) variant details
- p.Ser9Thr
- gnomAD rs1170501749
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.26
- MetaLR 0.16
- MetaSVM -0.93
- CADD 20.40
- PolyPhen-2 0.02
- SIFT 0.22
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.5e-05)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.594