E46D (p.Glu46Asp) variant of OPTN (Optineurin)
E46D (p.Glu46Asp) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E46D (p.Glu46Asp) variant details
- p.Glu46Asp
- gnomAD rs1832940574
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.36
- CADD 22.50
- PolyPhen-2 1.00
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available