R31* (p.Arg31Ter) variant of USH1C (Harmonin)
R31* (p.Arg31Ter) 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 0.77 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R31* (p.Arg31Ter) variant details
- p.Arg31Ter
- rs121908370
- ClinGen CA253419
- cosmic curated COSV50016
- ClinVar RCV000005453
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.771
- CADD 43.00
- 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 -0.0357
- Cited in: Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype… (PMID 11139240)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)