I88L (p.Ile88Leu) variant of AQP7 (Aquaporin-7)
I88L (p.Ile88Leu) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
I88L (p.Ile88Leu) variant details
- p.Ile88Leu
- ExAC rs767456180
- gnomAD rs767456180
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.29
- CADD 8.17
- PolyPhen-2 0.04
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available