P54L (p.Pro54Leu) variant of SCN5A (Nav1.5)
P54L (p.Pro54Leu) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes structural context.
P54L (p.Pro54Leu) variant details
- p.Pro54Leu
- rs2471905396
- ClinGen CA352158449
- ClinVar RCV003658090
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- ESM-1b 1.00
- AlphaMissense 0.27
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available