I28M (p.Ile28Met) variant of AQP7 (Aquaporin-7)
I28M (p.Ile28Met) 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.
I28M (p.Ile28Met) variant details
- p.Ile28Met
- ExAC rs774787164
- gnomAD rs774787164
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.20
- CADD 0.08
- PolyPhen-2 0.14
- SIFT 0.31
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available