W59C (p.Trp59Cys) variant of AQP4 (Aquaporin-4)
W59C (p.Trp59Cys) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
W59C (p.Trp59Cys) variant details
- p.Trp59Cys
- ExAC rs757911333
- gnomAD rs757911333
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.86
- CADD 28.30
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available