W19S (p.Trp19Ser) variant of AQP7 (Aquaporin-7)
W19S (p.Trp19Ser) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
W19S (p.Trp19Ser) variant details
- p.Trp19Ser
- 1000Genomes rs185204201
- ExAC rs185204201
- TOPMed rs185204201
- gnomAD rs185204201
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.13
- CADD 8.34
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available