G27R (p.Gly27Arg) variant of AQP2 (Aquaporin-2)
G27R (p.Gly27Arg) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
G27R (p.Gly27Arg) variant details
- p.Gly27Arg
- ExAC rs778267384
- gnomAD rs778267384
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.93
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available