H68Y (p.His68Tyr) variant of USH2A (Usherin)
H68Y (p.His68Tyr) in USH2A (Usherin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
H68Y (p.His68Tyr) variant details
- p.His68Tyr
- Ensembl rs1457417823
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.04
- CADD 17.80
- PolyPhen-2 0.14
- SIFT 0.17
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available