R35Q (p.Arg35Gln) variant of AQP7 (Aquaporin-7)
R35Q (p.Arg35Gln) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
R35Q (p.Arg35Gln) variant details
- p.Arg35Gln
- ExAC rs763689078
- TOPMed rs763689078
- gnomAD rs763689078
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.51
- CADD 24.40
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available