K62R (p.Lys62Arg) variant of AQP7 (Aquaporin-7)
K62R (p.Lys62Arg) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
K62R (p.Lys62Arg) variant details
- p.Lys62Arg
- ExAC rs753629469
- gnomAD rs753629469
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.02
- CADD 1.45
- PolyPhen-2 0.04
- SIFT 0.60
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available