G28E (p.Gly28Glu) variant of AQP4 (Aquaporin-4)
G28E (p.Gly28Glu) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
G28E (p.Gly28Glu) variant details
- p.Gly28Glu
- cosmic curated COSV67218
- TOPMed rs1411558805
- gnomAD rs1411558805
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.58
- CADD 20.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available