V34M (p.Val34Met) variant of AQP7 (Aquaporin-7)
V34M (p.Val34Met) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
V34M (p.Val34Met) variant details
- p.Val34Met
- 1000Genomes rs543495409
- ExAC rs543495409
- gnomAD rs543495409
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.22
- CADD 16.20
- PolyPhen-2 0.14
- SIFT 0.02
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available