T13N (p.Thr13Asn) variant of KCNH2 (hERG)
T13N (p.Thr13Asn) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Long QT syndrome 2; Short QT syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T13N (p.Thr13Asn) variant details
- p.Thr13Asn
- rs758978727
- ClinGen CA039255
- ClinVar RCV001349592
- ClinVar RCV001843182
- Conflicting interpretations
- Cardiovascular phenotype; Long QT syndrome 2; Short QT syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.96
- MetaSVM 1.19
- CADD 27.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Long QT syndrome 2; Short QT syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 122
- 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)