V82E (p.Val82Glu) variant of AQP7 (Aquaporin-7)
V82E (p.Val82Glu) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
V82E (p.Val82Glu) variant details
- p.Val82Glu
- ExAC rs763225810
- TOPMed rs763225810
- gnomAD rs763225810
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.26
- CADD 23.00
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available