A10A (p.Ala10Ala) variant of OPA1 (O60313)
A10A (p.Ala10Ala) in OPA1 (O60313) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
A10A (p.Ala10Ala) variant details
- p.Ala10Ala
- gnomAD 3-193593407-C-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.634
- CADD 21.00
- Population evidence available
- Structural context available
- Literature evidence available