P47L (p.Pro47Leu) variant of SCN5A (Q14524)
P47L (p.Pro47Leu) in SCN5A (Q14524) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
P47L (p.Pro47Leu) variant details
- p.Pro47Leu
- rs2471905654
- ClinGen CA352158584
- ClinVar RCV003658451
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available