E70D (p.Glu70Asp) variant of OPTN (Optineurin)
E70D (p.Glu70Asp) 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.
E70D (p.Glu70Asp) variant details
- p.Glu70Asp
- gnomAD 10-13110317-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.50
- CADD 24.00
- PolyPhen-2 0.78
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available