E71E (p.Glu71Glu) variant of OPTN (Optineurin)
E71E (p.Glu71Glu) in OPTN (Optineurin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
E71E (p.Glu71Glu) variant details
- p.Glu71Glu
- rs1832967695
- gnomAD 10-13110320-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.253
- CADD 11.00
- Population evidence available
- Structural context available
- Literature evidence available