I57I (p.Ile57Ile) variant of AQP4 (Aquaporin-4)
I57I (p.Ile57Ile) in AQP4 (Aquaporin-4) 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.
I57I (p.Ile57Ile) variant details
- p.Ile57Ile
- rs1598516894
- gnomAD 18-26862458-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.385
- CADD 10.20
- Population evidence available
- Structural context available
- Literature evidence available