V85L (p.Val85Leu) variant of AQP4 (Aquaporin-4)
V85L (p.Val85Leu) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
V85L (p.Val85Leu) variant details
- p.Val85Leu
- TOPMed rs2054966723
- gnomAD rs2054966723
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.79
- CADD 24.70
- PolyPhen-2 0.45
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available