Q30R (p.Gln30Arg) variant of AQP7 (Aquaporin-7)
Q30R (p.Gln30Arg) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
Q30R (p.Gln30Arg) variant details
- p.Gln30Arg
- ExAC rs745617679
- Missense
- Variant Prioritization Score for Impact Estimate 0.0981
- REVEL 0.09
- CADD 4.46
- PolyPhen-2 0.00
- SIFT 0.94
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available