W30C (p.Trp30Cys) variant of AQP4 (Aquaporin-4)
W30C (p.Trp30Cys) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
W30C (p.Trp30Cys) variant details
- p.Trp30Cys
- ExAC rs764731008
- gnomAD rs764731008
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.55
- CADD 22.80
- PolyPhen-2 0.07
- SIFT 0.22
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available