C87Y (p.Cys87Tyr) variant of AQP4 (Aquaporin-4)
C87Y (p.Cys87Tyr) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
C87Y (p.Cys87Tyr) variant details
- p.Cys87Tyr
- gnomAD 18-26862369-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.89
- MetaLR 0.81
- MetaSVM 0.80
- CADD 26.00
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available