H45Y (p.His45Tyr) variant of OPA1 (O60313)
H45Y (p.His45Tyr) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
H45Y (p.His45Tyr) variant details
- p.His45Tyr
- gnomAD 3-193614823-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.21
- CADD 9.39
- PolyPhen-2 0.00
- SIFT 0.91
- Population evidence available
- Structural context available
- Literature evidence available