A11S (p.Ala11Ser) variant of CBL (E3 ubiquitin-protein ligase CBL)
A11S (p.Ala11Ser) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. Clinical records from ClinVar, EBI, 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 0.26 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A11S (p.Ala11Ser) variant details
- p.Ala11Ser
- rs2496819112
- ClinGen CA382975701
- ClinVar RCV003177770
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.17
- MetaLR 0.21
- MetaSVM -0.93
- CADD 19.80
- PolyPhen-2 0.02
- SIFT 0.08
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -1.02