I53M (p.Ile53Met) variant of AQP5 (Aquaporin-5)
I53M (p.Ile53Met) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
I53M (p.Ile53Met) variant details
- p.Ile53Met
- ExAC rs748233977
- TOPMed rs748233977
- gnomAD rs748233977
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.44
- CADD 4.13
- PolyPhen-2 0.90
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available