T109M (p.Thr109Met) variant of AQP3 (Aquaporin-3)
T109M (p.Thr109Met) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
T109M (p.Thr109Met) variant details
- p.Thr109Met
- cosmic curated COSV10883
- ExAC rs761390305
- TOPMed rs761390305
- gnomAD rs761390305
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.57
- CADD 22.90
- PolyPhen-2 1.00
- SIFT 0.22
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available