G12R (p.Gly12Arg) variant of AQP3 (Aquaporin-3)
G12R (p.Gly12Arg) in AQP3 (Aquaporin-3) is a missense change. Clinical records from ClinVar, EBI, 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 0.43 / 1. The record also includes population frequency data and structural context.
G12R (p.Gly12Arg) variant details
- p.Gly12Arg
- ExAC rs773909054
- TOPMed rs773909054
- gnomAD rs773909054
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.31
- AlphaMissense 0.16
- MetaLR 0.34
- MetaSVM -0.07
- CADD 22.90
- PolyPhen-2 0.05
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available