V55M (p.Val55Met) variant of AQP7 (Aquaporin-7)
V55M (p.Val55Met) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
V55M (p.Val55Met) variant details
- p.Val55Met
- 1000Genomes rs538923905
- ExAC rs538923905
- TOPMed rs538923905
- gnomAD rs538923905
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.30
- CADD 24.40
- PolyPhen-2 0.78
- SIFT 0.00
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available