E12E (p.Glu12Glu) variant of OPA1 (O60313)
E12E (p.Glu12Glu) in OPA1 (O60313) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E12E (p.Glu12Glu) variant details
- p.Glu12Glu
- gnomAD 3-193614726-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.278
- CADD 7.19
- Population evidence available
- Structural context available
- Literature evidence available