N38K (p.Asn38Lys) variant of KCNH2 (hERG)
N38K (p.Asn38Lys) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes experimental measurements, published literature, and structural context.
N38K (p.Asn38Lys) variant details
- p.Asn38Lys
- rs2117063715
- ClinGen CA369865916
- ClinVar RCV001991634
- Ensembl rs2117063715
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- AlphaMissense 0.90
- MetaLR 0.96
- MetaSVM 1.14
- PolyPhen-2 0.01
- SIFT 0.01
- MutPred 0.58
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 73.3
- 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)