T143A (p.Thr143Ala) variant of SCN5A (Q14524)
T143A (p.Thr143Ala) in SCN5A (Q14524) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Sick sinus syndrome 1; Dilated cardiomyopathy 1E; Progressive familial heart blo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
T143A (p.Thr143Ala) variant details
- p.Thr143Ala
- rs746026950
- ClinGen CA063020
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10034
- Uncertain significance
- Sick sinus syndrome 1; Dilated cardiomyopathy 1E; Progressive familial heart blo
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.79
- CADD 24.30
- PolyPhen-2 0.14
- SIFT 0.16
- ClinVar: Uncertain significance (Sick sinus syndrome 1; Dilated cardiomyopathy 1E; Progressive fa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)