E70Q (p.Glu70Gln) variant of OPTN (Optineurin)
E70Q (p.Glu70Gln) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
E70Q (p.Glu70Gln) variant details
- p.Glu70Gln
- gnomAD 10-13110315-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.56
- CADD 23.60
- PolyPhen-2 0.35
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available