S19N (p.Ser19Asn) variant of ANK2 (Ankyrin-2)
S19N (p.Ser19Asn) in ANK2 (Ankyrin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Long QT syndrome; Cardiac arrhythmia, ankyrin-B-related; Cardiovascular phenotyp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S19N (p.Ser19Asn) variant details
- p.Ser19Asn
- rs369260005
- ClinGen CA3049843
- ClinVar RCV000315698
- ClinVar RCV001342296
- Conflicting interpretations
- Long QT syndrome; Cardiac arrhythmia, ankyrin-B-related; Cardiovascular phenotyp
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.04
- CADD 18.90
- PolyPhen-2 0.06
- SIFT 0.27
- ClinVar: Conflicting classifications of pathogenicity (Long QT syndrome; Cardiac arrhythmia, ankyrin-B-related; Cardiov)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.396
- 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)