W59R (p.Trp59Arg) variant of AQP4 (Aquaporin-4)
W59R (p.Trp59Arg) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
W59R (p.Trp59Arg) variant details
- p.Trp59Arg
- ExAC rs778217275
- gnomAD rs778217275
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.90
- CADD 28.40
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available