Q43E (p.Gln43Glu) variant of AQP2 (Aquaporin-2)
Q43E (p.Gln43Glu) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
Q43E (p.Gln43Glu) variant details
- p.Gln43Glu
- gnomAD 12-49950957-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.71
- CADD 24.30
- PolyPhen-2 0.98
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available