T18I (p.Thr18Ile) variant of KCNJ5 (P48544)
T18I (p.Thr18Ile) in KCNJ5 (P48544) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Long QT syndrome; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
T18I (p.Thr18Ile) variant details
- p.Thr18Ile
- rs375669366
- ClinGen CA6357811
- ClinVar RCV001305885
- ClinVar RCV002245954
- Conflicting interpretations
- Long QT syndrome; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.31
- MetaLR 0.64
- MetaSVM -0.49
- CADD 9.08
- PolyPhen-2 0.01
- SIFT 0.19
- ClinVar: Conflicting classifications of pathogenicity (Long QT syndrome; Cardiovascular phenotype; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 0.00012)
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)