E39E (p.Glu39Glu) variant of OPTN (Optineurin)
E39E (p.Glu39Glu) in OPTN (Optineurin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
E39E (p.Glu39Glu) variant details
- p.Glu39Glu
- rs762907608
- gnomAD 10-13109239-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.217
- CADD 9.01
- Population evidence available
- Structural context available
- Literature evidence available