P71T (p.Pro71Thr) variant of SCN4A (Nav1.4)
P71T (p.Pro71Thr) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hyperkalemic periodic paralysis. The record also includes population frequency data and structural context.
P71T (p.Pro71Thr) variant details
- p.Pro71Thr
- 1000Genomes rs187055074
- ESP rs187055074
- ExAC rs187055074
- TOPMed rs187055074
- Uncertain significance
- Hyperkalemic periodic paralysis
- Missense
- ClinVar: Uncertain significance (Hyperkalemic periodic paralysis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available