E40K (p.Glu40Lys) variant of AQP7 (Aquaporin-7)
E40K (p.Glu40Lys) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
E40K (p.Glu40Lys) variant details
- p.Glu40Lys
- ExAC rs2381002
- TOPMed rs2381002
- gnomAD rs2381002
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.74
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:BASQUE population (allele frequency 0.023)
- Structural context available