P72R (p.Pro72Arg) variant of SCN4A (Nav1.4)

Name: SCN4A P72R (p.Pro72Arg) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-18
License: https://catvariant.com/terms-of-use

P72R (p.Pro72Arg) 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.

P72R (p.Pro72Arg) variant details

p.Pro72Arg
NCI-TCGA Cosmic COSV7112
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