C17Y (p.Cys17Tyr) variant of AQP4 (Aquaporin-4)
C17Y (p.Cys17Tyr) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
C17Y (p.Cys17Tyr) variant details
- p.Cys17Tyr
- TOPMed rs1291878555
- gnomAD rs1291878555
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.60
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available