E13* (p.Glu13Ter) variant of OPTN (Optineurin)
E13* (p.Glu13Ter) in OPTN (Optineurin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
E13* (p.Glu13Ter) variant details
- p.Glu13Ter
- gnomAD 10-13109159-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.577
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available