E14D (p.Glu14Asp) variant of ANK2 (Ankyrin-2)
E14D (p.Glu14Asp) 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 0.33 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E14D (p.Glu14Asp) variant details
- p.Glu14Asp
- rs983314290
- ClinGen CA104483598
- ClinVar RCV003112597
- TOPMed rs983314290
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.12
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.13
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.31
- 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)