N144T (p.Asn144Thr) variant of SCN5A (Nav1.5)
N144T (p.Asn144Thr) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
N144T (p.Asn144Thr) variant details
- p.Asn144Thr
- rs2471848675
- ClinGen CA352154711
- ClinVar RCV003860375
- ClinVar RCV004006142
- Uncertain significance
- Cardiac arrhythmia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.96
- MetaSVM 1.10
- CADD 26.00
- ClinVar: Uncertain significance (Cardiac arrhythmia; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available