P5T (p.Pro5Thr) variant of NKX2-5 (Homeobox protein Nkx-2.5)
P5T (p.Pro5Thr) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
P5T (p.Pro5Thr) variant details
- p.Pro5Thr
- ExAC rs769233111
- TOPMed rs769233111
- gnomAD rs769233111
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available