I81I (p.Ile81Ile) variant of AQP4 (Aquaporin-4)
I81I (p.Ile81Ile) in AQP4 (Aquaporin-4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
I81I (p.Ile81Ile) variant details
- p.Ile81Ile
- rs1392864827
- gnomAD 18-26862386-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.144
- CADD 8.96
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available