R26* (p.Arg26Ter) variant of KCNJ10 (P78508)
R26* (p.Arg26Ter) in KCNJ10 (P78508) 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 0.68 / 1. The record also includes population frequency data and published literature.
R26* (p.Arg26Ter) variant details
- p.Arg26Ter
- rs138943405
- ClinGen CA207249
- cosmic curated COSV63632
- ClinVar RCV000193637
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.677
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)