G6R (p.Gly6Arg) variant of AQP7 (Aquaporin-7)
G6R (p.Gly6Arg) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
G6R (p.Gly6Arg) variant details
- p.Gly6Arg
- 1000Genomes rs148119598
- ESP rs148119598
- ExAC rs148119598
- TOPMed rs148119598
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.20
- CADD 0.30
- PolyPhen-2 0.00
- SIFT 0.87
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available