T87I (p.Thr87Ile) variant of AQP3 (Aquaporin-3)
T87I (p.Thr87Ile) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
T87I (p.Thr87Ile) variant details
- p.Thr87Ile
- TOPMed rs1264388787
- gnomAD rs1264388787
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.67
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available