Q43R (p.Gln43Arg) variant of AQP2 (Aquaporin-2)
Q43R (p.Gln43Arg) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
Q43R (p.Gln43Arg) variant details
- p.Gln43Arg
- ExAC rs763727714
- gnomAD rs763727714
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.73
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available