G61R (p.Gly61Arg) variant of AQP4 (Aquaporin-4)
G61R (p.Gly61Arg) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
G61R (p.Gly61Arg) variant details
- p.Gly61Arg
- ExAC rs764792847
- TOPMed rs764792847
- gnomAD rs764792847
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.50
- CADD 22.90
- PolyPhen-2 0.27
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 4.5e-05)
- Structural context available