R81H (p.Arg81His) variant of USH1C (Harmonin)
R81H (p.Arg81His) in USH1C (Harmonin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R81H (p.Arg81His) variant details
- p.Arg81His
- ExAC rs776956839
- gnomAD rs776956839
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.14
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.47