A8A (p.Ala8Ala) variant of OPA1 (O60313)
A8A (p.Ala8Ala) in OPA1 (O60313) is a synonymous 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.
A8A (p.Ala8Ala) variant details
- p.Ala8Ala
- gnomAD 3-193593401-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.377
- CADD 13.90
- Population evidence available
- Structural context available
- Literature evidence available