E50R (p.Glu50Arg) variant of OPTN (Optineurin)
E50R (p.Glu50Arg) in OPTN (Optineurin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E50R (p.Glu50Arg) variant details
- p.Glu50Arg
- gnomAD 10-13109269-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 33.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available