V38L (p.Val38Leu) variant of AQP4 (Aquaporin-4)
V38L (p.Val38Leu) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
V38L (p.Val38Leu) variant details
- p.Val38Leu
- ExAC rs778208236
- TOPMed rs778208236
- gnomAD rs778208236
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.53
- CADD 21.90
- PolyPhen-2 0.14
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available