I53I (p.Ile53Ile) variant of AQP5 (Aquaporin-5)
I53I (p.Ile53Ile) in AQP5 (Aquaporin-5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
I53I (p.Ile53Ile) variant details
- p.Ile53Ile
- rs748233977
- gnomAD 12-49962176-A-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0841
- CADD 0.48
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available