E20Q (p.Glu20Gln) variant of AQP4 (Aquaporin-4)
E20Q (p.Glu20Gln) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
E20Q (p.Glu20Gln) variant details
- p.Glu20Gln
- ExAC rs781604412
- TOPMed rs781604412
- gnomAD rs781604412
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.16
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available