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 Short QT syndrome type 1; Long QT syndrome 2; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 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
- Short QT syndrome type 1; Long QT syndrome 2; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.90
- CADD 25.60
- PolyPhen-2 0.47
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Short QT syndrome type 1; Long QT syndrome 2; Long QT syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Amish population (allele frequency 0.17)
- Structural context available
- KCNH2 MAVE Trafficking Scores: 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)