E29* (p.Glu29Ter) variant of SLC26A4 (Pendrin)
E29* (p.Glu29Ter) in SLC26A4 (Pendrin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in PDS. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
E29* (p.Glu29Ter) variant details
- p.Glu29Ter
- rs111033205
- ClinGen CA261442
- ClinVar RCV000036510
- ClinVar RCV000665064
- Pathogenic
- in PDS
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.666
- CADD 37.00
- EBI: Pathogenic (in PDS)
- UniProt: Pathogenic (in PDS)
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)