V68I (p.Val68Ile) variant of AQP4 (Aquaporin-4)
V68I (p.Val68Ile) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
V68I (p.Val68Ile) variant details
- p.Val68Ile
- TOPMed rs1423385040
- gnomAD rs1423385040
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.25
- CADD 12.50
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available