N33T (p.Asn33Thr) variant of KCNH2 (hERG)
N33T (p.Asn33Thr) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiac arrhythmia; Cardiovascular phenotype; 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.
N33T (p.Asn33Thr) variant details
- p.Asn33Thr
- rs199473487
- ClinGen CA009070
- ClinVar RCV000058282
- ClinVar RCV000780363
- Conflicting interpretations
- Cardiac arrhythmia; Cardiovascular phenotype; 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: Conflicting classifications of pathogenicity (Cardiac arrhythmia; Cardiovascular phenotype; not provided)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 12
- Cited in: Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel… (PMID 10187793)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)