T10I (p.Thr10Ile) variant of SCN5A (Nav1.5)
T10I (p.Thr10Ile) 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; Cardiac arrhythmia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
T10I (p.Thr10Ile) variant details
- p.Thr10Ile
- rs753443631
- ClinGen CA352159524
- ClinVar RCV004015757
- ClinVar RCV005629000
- Uncertain significance
- not provided; Cardiac arrhythmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.56
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.56
- MetaSVM 0.27
- CADD 23.90
- ClinVar: Uncertain significance (not provided; Cardiac arrhythmia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available