P71A (p.Pro71Ala) variant of SCN4A (Nav1.4)
P71A (p.Pro71Ala) in SCN4A (Nav1.4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes population frequency data and structural context.
P71A (p.Pro71Ala) variant details
- p.Pro71Ala
- 1000Genomes rs187055074
- ESP rs187055074
- ExAC rs187055074
- TOPMed rs187055074
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available