Y41C (p.Tyr41Cys) variant of OPA1 (O60313)
Y41C (p.Tyr41Cys) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
Y41C (p.Tyr41Cys) variant details
- p.Tyr41Cys
- gnomAD 3-193614812-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.43
- CADD 23.10
- PolyPhen-2 0.41
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available