A25T (p.Ala25Thr) variant of AQP3 (Aquaporin-3)
A25T (p.Ala25Thr) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A25T (p.Ala25Thr) variant details
- p.Ala25Thr
- ExAC rs775067063
- TOPMed rs775067063
- gnomAD rs775067063
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.13
- CADD 22.50
- PolyPhen-2 0.41
- SIFT 0.07
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available