G51C (p.Gly51Cys) variant of AQP7 (Aquaporin-7)
G51C (p.Gly51Cys) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
G51C (p.Gly51Cys) variant details
- p.Gly51Cys
- 1000Genomes rs575153087
- ExAC rs575153087
- TOPMed rs575153087
- gnomAD rs575153087
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.90
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available