R82G (p.Arg82Gly) variant of USH2A (Usherin)
R82G (p.Arg82Gly) in USH2A (Usherin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
R82G (p.Arg82Gly) variant details
- p.Arg82Gly
- ESP rs373005305
- ExAC rs373005305
- TOPMed rs373005305
- gnomAD rs373005305
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.10
- CADD 15.60
- PolyPhen-2 0.17
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available