R19G (p.Arg19Gly) variant of AQP4 (Aquaporin-4)
R19G (p.Arg19Gly) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R19G (p.Arg19Gly) variant details
- p.Arg19Gly
- ESP rs371918868
- TOPMed rs371918868
- gnomAD rs371918868
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.35
- CADD 19.50
- PolyPhen-2 0.02
- SIFT 0.11
- Most common in the HGDP:SHE population (allele frequency 0.056)
- Structural context available