A40E (p.Ala40Glu) variant of AQP4 (Aquaporin-4)
A40E (p.Ala40Glu) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
A40E (p.Ala40Glu) variant details
- p.Ala40Glu
- 1000Genomes rs200221507
- ExAC rs200221507
- TOPMed rs200221507
- gnomAD rs200221507
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.79
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available