T39I (p.Thr39Ile) variant of AQP4 (Aquaporin-4)
T39I (p.Thr39Ile) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
T39I (p.Thr39Ile) variant details
- p.Thr39Ile
- gnomAD rs1001463702
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.27
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available