W35C (p.Trp35Cys) variant of AQP4 (Aquaporin-4)
W35C (p.Trp35Cys) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
W35C (p.Trp35Cys) variant details
- p.Trp35Cys
- gnomAD rs1269230456
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.90
- CADD 28.00
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available