E27D (p.Glu27Asp) variant of AQP7 (Aquaporin-7)
E27D (p.Glu27Asp) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
E27D (p.Glu27Asp) variant details
- p.Glu27Asp
- gnomAD rs1232662359
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.20
- CADD 0.08
- PolyPhen-2 0.01
- SIFT 0.46
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available