C13R (p.Cys13Arg) variant of AQP4 (Aquaporin-4)
C13R (p.Cys13Arg) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
C13R (p.Cys13Arg) variant details
- p.Cys13Arg
- ExAC rs749543943
- TOPMed rs749543943
- gnomAD rs749543943
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.39
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available