V84L (p.Val84Leu) variant of AQP7 (Aquaporin-7)
V84L (p.Val84Leu) 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.
V84L (p.Val84Leu) variant details
- p.Val84Leu
- 1000Genomes rs567492290
- ExAC rs567492290
- TOPMed rs567492290
- gnomAD rs567492290
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.19
- CADD 0.00
- PolyPhen-2 0.02
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available