Y90H (p.Tyr90His) variant of USH2A (Usherin)
Y90H (p.Tyr90His) in USH2A (Usherin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
Y90H (p.Tyr90His) variant details
- p.Tyr90His
- ExAC rs779127191
- gnomAD rs779127191
- Missense
- Variant Prioritization Score for Impact Estimate 0.0542
- REVEL 0.02
- CADD 5.48
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available