G117R (p.Gly117Arg) variant of AQP3 (Aquaporin-3)
G117R (p.Gly117Arg) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
G117R (p.Gly117Arg) variant details
- p.Gly117Arg
- gnomAD rs1826868309
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.87
- CADD 29.10
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available