G53S (p.Gly53Ser) variant of AQP7 (Aquaporin-7)
G53S (p.Gly53Ser) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
G53S (p.Gly53Ser) variant details
- p.Gly53Ser
- ExAC rs750945114
- TOPMed rs750945114
- gnomAD rs750945114
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.80
- CADD 23.40
- PolyPhen-2 0.92
- SIFT 0.17
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available