S12C (p.Ser12Cys) variant of SCN5A (Nav1.5)
S12C (p.Ser12Cys) 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 0.52 / 1. The record also includes population frequency data and structural context.
S12C (p.Ser12Cys) variant details
- p.Ser12Cys
- rs2471907097
- ClinGen CA352159490
- ClinVar RCV003846518
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.61
- ESM-1b 0.86
- AlphaMissense 0.09
- MetaLR 0.67
- MetaSVM 0.36
- CADD 20.40
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available