E38E (p.Glu38Glu) variant of OPTN (Optineurin)
E38E (p.Glu38Glu) 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.
E38E (p.Glu38Glu) variant details
- p.Glu38Glu
- rs1177703507
- gnomAD 10-13109236-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.251
- CADD 9.64
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available