E13del (p.Glu13del) variant of OPTN (Optineurin)
E13del (p.Glu13del) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
E13del (p.Glu13del) variant details
- rs1363880953
- gnomAD 10-13109156-AAGG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.448
- CADD 14.40
- Population evidence available
- Structural context available
- Literature evidence available