Q32* (p.Gln32Ter) variant of SCN5A (Nav1.5)
Q32* (p.Gln32Ter) in SCN5A (Nav1.5) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes structural context.
Q32* (p.Gln32Ter) variant details
- p.Gln32Ter
- rs2062567690
- ClinGen CA352158980
- ClinVar RCV002374128
- ClinVar RCV003546813
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.404
- MetaLR 0.22
- MetaSVM -0.80
- CADD 18.75
- EVE 0.15
- MutPred 0.26
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available