E9* (p.Glu9Ter) variant of SLC26A4 (Pendrin)
E9* (p.Glu9Ter) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
E9* (p.Glu9Ter) variant details
- p.Glu9Ter
- rs758648839
- ClinGen CA368844722
- ClinVar RCV001386210
- ClinVar RCV004570960
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.473
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)