N33S (p.Asn33Ser) variant of KCNH2 (hERG)
N33S (p.Asn33Ser) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes experimental measurements, published literature, and structural context.
N33S (p.Asn33Ser) variant details
- p.Asn33Ser
- rs199473487
- ClinGen CA369865980
- ClinVar RCV002224220
- ClinVar RCV003089165
- Uncertain significance
- Long QT syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- AlphaMissense 0.80
- MetaLR 0.96
- MetaSVM 1.14
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.81
- ClinVar: Uncertain significance (Long QT syndrome; not provided)
- EBI: Likely pathogenic (in LQT2)
- UniProt: Likely pathogenic (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 12
- 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)