Q53del (p.Gln53del) variant of OPTN (Optineurin)
Q53del (p.Gln53del) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
Q53del (p.Gln53del) variant details
- gnomAD 10-13109278-CCAG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.455
- CADD 20.80
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available