E56Q (p.Glu56Gln) variant of OPTN (Optineurin)
E56Q (p.Glu56Gln) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and published literature.
E56Q (p.Glu56Gln) variant details
- p.Glu56Gln
- gnomAD 10-13109288-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.46
- CADD 33.00
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available