K27T (p.Lys27Thr) variant of ANK2 (Ankyrin-2)
K27T (p.Lys27Thr) in ANK2 (Ankyrin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Long QT syndrome; Cardiac arrhythmia, ankyrin-B-related. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K27T (p.Lys27Thr) variant details
- p.Lys27Thr
- rs769843073
- ClinGen CA301003
- ClinVar RCV000170724
- ClinVar RCV000228758
- Uncertain significance
- not provided; Long QT syndrome; Cardiac arrhythmia, ankyrin-B-related
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.08
- CADD 23.00
- PolyPhen-2 0.16
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Long QT syndrome; Cardiac arrhythmia, ankyrin-B-re)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.236
- 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)