P72T (p.Pro72Thr) variant of SCN4A (Nav1.4)
P72T (p.Pro72Thr) in SCN4A (Nav1.4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of the patient carries a disease-causing CCTG repeat expansion in CNBP. The record also includes structural context.
P72T (p.Pro72Thr) variant details
- p.Pro72Thr
- gnomAD rs1351424943
- Uncertain significance
- the patient carries a disease-causing CCTG repeat expansion in CNBP
- Missense
- EBI: uncertain significance (the patient carries a disease-causing CCTG repeat expansion in C)
- UniProt: Uncertain significance (the patient carries a disease-causing CCTG repeat expansion in C)
- Structural context available