V9A (p.Val9Ala) variant of OPA1 (O60313)
V9A (p.Val9Ala) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
V9A (p.Val9Ala) variant details
- p.Val9Ala
- gnomAD 3-193593403-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.34
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available