V75M (p.Val75Met) variant of NKX2-1 (Homeobox protein Nkx-2.1)
V75M (p.Val75Met) 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.
V75M (p.Val75Met) variant details
- p.Val75Met
- ExAC rs776161318
- TOPMed rs776161318
- gnomAD rs776161318
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available