T17I (p.Thr17Ile) variant of SCN5A (Nav1.5)
T17I (p.Thr17Ile) 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 0.92 / 1. The record also includes structural context.
T17I (p.Thr17Ile) variant details
- p.Thr17Ile
- rs2471906931
- ClinGen CA352159357
- ClinVar RCV003658894
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- ESM-1b 1.00
- AlphaMissense 0.83
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available