S23* (p.Ser23Ter) variant of SLC26A4 (Pendrin)

Name: SLC26A4 S23* (p.Ser23Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-05-15
License: https://catvariant.com/terms-of-use

S23* (p.Ser23Ter) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.

S23* (p.Ser23Ter) variant details

p.Ser23Ter
rs397516430
ClinGen CA261435
ClinVar RCV000036502
ClinVar RCV000169606
Pathogenic
Stop Gained
Variant Prioritization Score for Impact Estimate 0.845
CADD 36.00
EBI: Pathogenic
UniProt: Pathogenic
Most common in the HGDP:BRAHUI population (allele frequency 0.065)
Structural context available
Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)