P54L (p.Pro54Leu) variant of SCN5A (Q14524)
P54L (p.Pro54Leu) 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.
P54L (p.Pro54Leu) variant details
- p.Pro54Leu
- rs2471905396
- ClinGen CA352158449
- ClinVar RCV003658090
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available