E13E (p.Glu13Glu) variant of OPTN (Optineurin)
E13E (p.Glu13Glu) in OPTN (Optineurin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
E13E (p.Glu13Glu) variant details
- p.Glu13Glu
- gnomAD 10-13109161-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.487
- CADD 4.14
- Population evidence available
- Structural context available
- Literature evidence available