G28V (p.Gly28Val) variant of AQP4 (Aquaporin-4)
G28V (p.Gly28Val) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
G28V (p.Gly28Val) variant details
- p.Gly28Val
- TOPMed rs1411558805
- gnomAD rs1411558805
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.71
- CADD 23.10
- PolyPhen-2 0.36
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available