G142D (p.Gly142Asp) variant of AQP3 (Aquaporin-3)
G142D (p.Gly142Asp) 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 record also includes structural context.
G142D (p.Gly142Asp) variant details
- p.Gly142Asp
- TOPMed rs1826860281
- Uncertain significance
- not specified
- Missense
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Structural context available