I45I (p.Ile45Ile) variant of AQP5 (Aquaporin-5)
I45I (p.Ile45Ile) in AQP5 (Aquaporin-5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
I45I (p.Ile45Ile) variant details
- p.Ile45Ile
- rs1474985654
- gnomAD 12-49962152-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.393
- CADD 6.73
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available