Q43P (p.Gln43Pro) variant of AQP2 (Aquaporin-2)
Q43P (p.Gln43Pro) in AQP2 (Aquaporin-2) 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.
Q43P (p.Gln43Pro) variant details
- p.Gln43Pro
- ExAC rs763727714
- gnomAD rs763727714
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.86
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available