R9Q (p.Arg9Gln) variant of AQP7 (Aquaporin-7)
R9Q (p.Arg9Gln) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R9Q (p.Arg9Gln) variant details
- p.Arg9Gln
- ExAC rs776777658
- TOPMed rs776777658
- gnomAD rs776777658
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.26
- CADD 25.10
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 0.00085)
- Structural context available