I88F (p.Ile88Phe) variant of AQP7 (Aquaporin-7)
I88F (p.Ile88Phe) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
I88F (p.Ile88Phe) variant details
- p.Ile88Phe
- ExAC rs767456180
- gnomAD rs767456180
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.46
- CADD 9.13
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available