E27K (p.Glu27Lys) variant of AQP7 (Aquaporin-7)
E27K (p.Glu27Lys) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
E27K (p.Glu27Lys) variant details
- p.Glu27Lys
- 1000Genomes rs145775825
- ExAC rs145775825
- gnomAD rs145775825
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.21
- CADD 0.04
- PolyPhen-2 0.10
- SIFT 1.00
- Most common in the 1KG:LWK population (allele frequency 0.017)
- Structural context available