G53C (p.Gly53Cys) variant of AQP7 (Aquaporin-7)
G53C (p.Gly53Cys) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
G53C (p.Gly53Cys) variant details
- p.Gly53Cys
- ExAC rs750945114
- TOPMed rs750945114
- gnomAD rs750945114
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.85
- CADD 25.10
- PolyPhen-2 0.96
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available