P48R (p.Pro48Arg) variant of NKX2-1 (Homeobox protein Nkx-2.1)
P48R (p.Pro48Arg) in NKX2-1 (Homeobox protein Nkx-2.1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes population frequency data and structural context.
P48R (p.Pro48Arg) variant details
- p.Pro48Arg
- ExAC rs750787733
- TOPMed rs750787733
- gnomAD rs750787733
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available