T92S (p.Thr92Ser) variant of SCN5A (Nav1.5)
T92S (p.Thr92Ser) 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 0.83 / 1. The record also includes population frequency data and structural context.
T92S (p.Thr92Ser) variant details
- p.Thr92Ser
- rs765675330
- ClinGen CA352157119
- ClinVar RCV003658201
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.49
- MetaLR 0.95
- MetaSVM 1.10
- CADD 25.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available