N43D (p.Asn43Asp) variant of ANK2 (Ankyrin-2)
N43D (p.Asn43Asp) in ANK2 (Ankyrin-2) 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 0.46 / 1. The record also includes experimental measurements, published literature, and structural context.
N43D (p.Asn43Asp) variant details
- p.Asn43Asp
- rs2153225129
- ClinGen CA357992930
- ClinVar RCV002037500
- Ensembl rs2153225129
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- AlphaMissense 0.78
- MetaLR 0.34
- MetaSVM -0.43
- PolyPhen-2 1.00
- SIFT 0.22
- MutPred 0.52
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.508
- 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)