R82W (p.Arg82Trp) variant of USH2A (Usherin)
R82W (p.Arg82Trp) in USH2A (Usherin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R82W (p.Arg82Trp) variant details
- p.Arg82Trp
- ESP rs373005305
- ExAC rs373005305
- TOPMed rs373005305
- gnomAD rs373005305
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.14
- CADD 21.90
- PolyPhen-2 0.51
- SIFT 0.00
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available