P48L (p.Pro48Leu) variant of NKX2-1 (Homeobox protein Nkx-2.1)
P48L (p.Pro48Leu) 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.
P48L (p.Pro48Leu) variant details
- p.Pro48Leu
- cosmic curated COSV61388
- ExAC rs750787733
- TOPMed rs750787733
- gnomAD rs750787733
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available