W2C (p.Trp2Cys) variant of OPA1 (O60313)
W2C (p.Trp2Cys) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
W2C (p.Trp2Cys) variant details
- p.Trp2Cys
- gnomAD 3-193593383-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.65
- CADD 32.00
- PolyPhen-2 0.44
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available