Y25* (p.Tyr25Ter) variant of USH1C (Harmonin)
Y25* (p.Tyr25Ter) in USH1C (Harmonin) 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 0.65 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y25* (p.Tyr25Ter) variant details
- p.Tyr25Ter
- rs2497241374
- ClinGen CA379800646
- ClinVar RCV003702644
- ClinVar RCV005609067
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.646
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.119
- Cited in: Usher Syndrome Type I. (PMID 20301442)
- Cited in: Clinical utility gene card for: Usher syndrome. (PMID 21697857)