A7S (p.Ala7Ser) variant of OPA1 (O60313)
A7S (p.Ala7Ser) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A7S (p.Ala7Ser) variant details
- p.Ala7Ser
- gnomAD 3-193593396-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.34
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available