I1593T (p.Ile1593Thr) variant of SCN5A (Nav1.5)
I1593T (p.Ile1593Thr) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Primary dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
I1593T (p.Ile1593Thr) variant details
- p.Ile1593Thr
- rs2061094546
- ClinGen CA352143636
- ClinVar RCV003233328
- Likely pathogenic
- Primary dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- AlphaMissense 0.64
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 0.96
- SIFT 0.00
- EVE 0.60
- ClinVar: Likely pathogenic (Primary dilated cardiomyopathy)
- EBI: Likely pathogenic (in LQT3)
- UniProt: Likely pathogenic (in LQT3)
- Structural context available
- Cited in: Cardiomyopathy, familial dilated. (PMID 16839424)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)