V38I (p.Val38Ile) variant of AQP4 (Aquaporin-4)
V38I (p.Val38Ile) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
V38I (p.Val38Ile) variant details
- p.Val38Ile
- ExAC rs778208236
- TOPMed rs778208236
- gnomAD rs778208236
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.49
- CADD 22.00
- PolyPhen-2 0.26
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available