V9E (p.Val9Glu) variant of OPA1 (O60313)
V9E (p.Val9Glu) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
V9E (p.Val9Glu) variant details
- p.Val9Glu
- gnomAD 3-193593403-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.52
- CADD 25.20
- PolyPhen-2 0.01
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available