T165I (p.Thr165Ile) variant of SCN5A (Nav1.5)
T165I (p.Thr165Ile) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiac arrhythmia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes structural context.
T165I (p.Thr165Ile) variant details
- p.Thr165Ile
- rs2471839332
- ClinGen CA352153994
- ClinVar RCV004007962
- Uncertain significance
- Cardiac arrhythmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.994
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Uncertain significance (Cardiac arrhythmia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available