P192T (p.Pro192Thr) variant of SCN5A (Nav1.5)
P192T (p.Pro192Thr) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes structural context.
P192T (p.Pro192Thr) variant details
- p.Pro192Thr
- rs2471838491
- ClinGen CA352153651
- ClinVar RCV002349919
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- ESM-1b 1.00
- AlphaMissense 0.64
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available