A10T (p.Ala10Thr) variant of OPA1 (O60313)
A10T (p.Ala10Thr) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A10T (p.Ala10Thr) variant details
- p.Ala10Thr
- gnomAD 3-193593405-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.18
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available