T109R (p.Thr109Arg) variant of AQP3 (Aquaporin-3)
T109R (p.Thr109Arg) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
T109R (p.Thr109Arg) variant details
- p.Thr109Arg
- ExAC rs761390305
- TOPMed rs761390305
- gnomAD rs761390305
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.78
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available