I99T (p.Ile99Thr) variant of AQP3 (Aquaporin-3)
I99T (p.Ile99Thr) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
I99T (p.Ile99Thr) variant details
- p.Ile99Thr
- TOPMed rs1163076998
- gnomAD rs1163076998
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.43
- CADD 23.40
- PolyPhen-2 0.54
- SIFT 0.42
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available