D62Y (p.Asp62Tyr) variant of USH2A (Usherin)
D62Y (p.Asp62Tyr) in USH2A (Usherin) 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 0.20 / 1. The record also includes population frequency data and structural context.
D62Y (p.Asp62Tyr) variant details
- p.Asp62Tyr
- 1000Genomes rs567937233
- ExAC rs567937233
- TOPMed rs567937233
- gnomAD rs567937233
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.06
- CADD 9.96
- PolyPhen-2 0.20
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available