G65R (p.Gly65Arg) variant of AQP7 (Aquaporin-7)
G65R (p.Gly65Arg) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
G65R (p.Gly65Arg) variant details
- p.Gly65Arg
- ESP rs368849644
- ExAC rs368849644
- gnomAD rs368849644
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.44
- CADD 24.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available