S15T (p.Ser15Thr) variant of CBL (E3 ubiquitin-protein ligase CBL)
S15T (p.Ser15Thr) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S15T (p.Ser15Thr) variant details
- p.Ser15Thr
- Ensembl rs1949269332
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.17
- MetaLR 0.22
- MetaSVM -0.83
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -1.09