R92G (p.Arg92Gly) variant of USH1C (Harmonin)
R92G (p.Arg92Gly) 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 0.67 / 1. The record also includes population frequency data and structural context.
R92G (p.Arg92Gly) variant details
- p.Arg92Gly
- cosmic curated COSV10632
- ExAC rs775407483
- TOPMed rs775407483
- gnomAD rs775407483
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.57
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available