E20G (p.Glu20Gly) variant of AQP4 (Aquaporin-4)
E20G (p.Glu20Gly) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
E20G (p.Glu20Gly) variant details
- p.Glu20Gly
- gnomAD rs1391868783
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.25
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available