E3Q (p.Glu3Gln) variant of AQP2 (Aquaporin-2)
E3Q (p.Glu3Gln) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
E3Q (p.Glu3Gln) variant details
- p.Glu3Gln
- gnomAD 12-49950837-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.76
- CADD 26.90
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available