T512I (p.Thr512Ile) variant of SCN5A (Nav1.5)
T512I (p.Thr512Ile) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Progressive familial heart block, type 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
T512I (p.Thr512Ile) variant details
- p.Thr512Ile
- rs199473118
- ClinGen CA014930
- ClinVar RCV000010000
- ClinVar RCV000058426
- Pathogenic
- Progressive familial heart block, type 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.54
- CADD 9.97
- PolyPhen-2 0.02
- SIFT 0.19
- ClinVar: Pathogenic (Progressive familial heart block, type 1A)
- EBI: Pathogenic (in PFHB1A)
- UniProt: Pathogenic (in PFHB1A)
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. (PMID 11997281)
- Cited in: A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation. (PMID 12569159)