E15* (p.Glu15Ter) variant of SLC26A4 (Pendrin)
E15* (p.Glu15Ter) in SLC26A4 (Pendrin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
E15* (p.Glu15Ter) variant details
- p.Glu15Ter
- rs780980532
- ClinGen CA4432353
- ClinVar RCV003713242
- ExAC rs780980532
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.69
- CADD 39.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available