E50* (p.Glu50Ter) variant of OPTN (Optineurin)
E50* (p.Glu50Ter) in OPTN (Optineurin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
E50* (p.Glu50Ter) variant details
- p.Glu50Ter
- gnomAD 10-13109270-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.874
- CADD 44.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available