A36T (p.Ala36Thr) variant of NKX2-1 (Homeobox protein Nkx-2.1)
A36T (p.Ala36Thr) 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 NKX2-1-Related Disorders. The record also includes population frequency data and structural context.
A36T (p.Ala36Thr) variant details
- p.Ala36Thr
- Ensembl rs1881224424
- Uncertain significance
- NKX2-1-Related Disorders
- Missense
- ClinVar: Uncertain significance (NKX2-1-Related Disorders)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available