R9Q (p.Arg9Gln) variant of AQP4 (Aquaporin-4)
R9Q (p.Arg9Gln) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R9Q (p.Arg9Gln) variant details
- p.Arg9Gln
- ExAC rs779120344
- TOPMed rs779120344
- gnomAD rs779120344
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.18
- CADD 20.40
- PolyPhen-2 0.02
- SIFT 0.32
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available