R92C (p.Arg92Cys) variant of USH1C (Harmonin)
R92C (p.Arg92Cys) in USH1C (Harmonin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
R92C (p.Arg92Cys) variant details
- p.Arg92Cys
- ExAC rs775407483
- TOPMed rs775407483
- gnomAD rs775407483
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.59
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available