P48Q (p.Pro48Gln) variant of NKX2-1 (Homeobox protein Nkx-2.1)
P48Q (p.Pro48Gln) in NKX2-1 (Homeobox protein Nkx-2.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes population frequency data and structural context.
P48Q (p.Pro48Gln) variant details
- p.Pro48Gln
- ExAC rs750787733
- TOPMed rs750787733
- gnomAD rs750787733
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available