C76F (p.Cys76Phe) variant of AQP4 (Aquaporin-4)
C76F (p.Cys76Phe) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
C76F (p.Cys76Phe) variant details
- p.Cys76Phe
- ExAC rs778270166
- gnomAD rs778270166
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- REVEL 0.81
- CADD 25.40
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available