I68I (p.Ile68Ile) variant of AQP5 (Aquaporin-5)
I68I (p.Ile68Ile) in AQP5 (Aquaporin-5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
I68I (p.Ile68Ile) variant details
- p.Ile68Ile
- gnomAD 12-49962221-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.283
- CADD 9.23
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available