G75S (p.Gly75Ser) variant of AQP7 (Aquaporin-7)
G75S (p.Gly75Ser) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
G75S (p.Gly75Ser) variant details
- p.Gly75Ser
- ExAC rs747608427
- TOPMed rs747608427
- gnomAD rs747608427
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.29
- CADD 24.80
- PolyPhen-2 0.97
- SIFT 0.02
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available