R3* (p.Arg3Ter) variant of USH1C (Harmonin)
R3* (p.Arg3Ter) 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 0.58 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R3* (p.Arg3Ter) variant details
- p.Arg3Ter
- rs876657624
- ClinGen CA10575817
- ClinVar RCV000240666
- TOPMed rs876657624
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.575
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- USH1C PDZ domain domainome 1.0: score 0.0922
- Cited in: Usher Syndrome Type I. (PMID 20301442)
- Cited in: Clinical utility gene card for: Usher syndrome. (PMID 21697857)