H93Y (p.His93Tyr) variant of OTOF (Otoferlin)
H93Y (p.His93Tyr) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
H93Y (p.His93Tyr) variant details
- p.His93Tyr
- Ensembl rs2148102505
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.15
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 0.14
- Population evidence available
- Structural context available