S15R (p.Ser15Arg) variant of CBL (E3 ubiquitin-protein ligase CBL)
S15R (p.Ser15Arg) 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 0.27 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S15R (p.Ser15Arg) variant details
- p.Ser15Arg
- Ensembl rs2135243998
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.24
- MetaLR 0.15
- MetaSVM -0.99
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.41
- 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