E20D (p.Glu20Asp) variant of AQP4 (Aquaporin-4)
E20D (p.Glu20Asp) in AQP4 (Aquaporin-4) 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.
E20D (p.Glu20Asp) variant details
- p.Glu20Asp
- TOPMed rs747267333
- gnomAD rs747267333
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.15
- CADD 9.81
- PolyPhen-2 0.00
- SIFT 0.19
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available