G12W (p.Gly12Trp) variant of AQP3 (Aquaporin-3)
G12W (p.Gly12Trp) in AQP3 (Aquaporin-3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
G12W (p.Gly12Trp) variant details
- p.Gly12Trp
- cosmic curated COSV99955
- ExAC rs773909054
- TOPMed rs773909054
- gnomAD rs773909054
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.42
- AlphaMissense 0.06
- MetaLR 0.35
- MetaSVM -0.40
- CADD 29.90
- PolyPhen-2 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available