I42I (p.Ile42Ile) variant of AQP5 (Aquaporin-5)
I42I (p.Ile42Ile) 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.
I42I (p.Ile42Ile) variant details
- p.Ile42Ile
- gnomAD 12-49962143-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0848
- CADD 0.59
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available