R89H (p.Arg89His) variant of USH1C (Harmonin)
R89H (p.Arg89His) in USH1C (Harmonin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R89H (p.Arg89His) variant details
- p.Arg89His
- rs749647539
- ClinGen CA5905110
- ClinVar RCV000669302
- ClinVar RCV001071473
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.75
- CADD 29.80
- PolyPhen-2 0.97
- SIFT 0.02
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.295
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Usher Syndrome Type I. (PMID 20301442)