A52T (p.Ala52Thr) variant of NKX2-1 (Homeobox protein Nkx-2.1)
A52T (p.Ala52Thr) 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.
A52T (p.Ala52Thr) variant details
- p.Ala52Thr
- Ensembl rs1594407218
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available