Q4P (p.Gln4Pro) variant of AQP3 (Aquaporin-3)
Q4P (p.Gln4Pro) in AQP3 (Aquaporin-3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
Q4P (p.Gln4Pro) variant details
- p.Gln4Pro
- TOPMed rs1481293569
- gnomAD rs1481293569
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.57
- CADD 31.00
- PolyPhen-2 0.83
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available