Y41H (p.Tyr41His) variant of OPA1 (O60313)
Y41H (p.Tyr41His) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Y41H (p.Tyr41His) variant details
- p.Tyr41His
- gnomAD 3-193614811-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.22
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available