R82Q (p.Arg82Gln) variant of USH2A (Usherin)
R82Q (p.Arg82Gln) in USH2A (Usherin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
R82Q (p.Arg82Gln) variant details
- p.Arg82Gln
- cosmic curated COSV10453
- TOPMed rs1373263514
- gnomAD rs1373263514
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- REVEL 0.02
- CADD 11.70
- PolyPhen-2 0.01
- SIFT 0.26
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available