I57T (p.Ile57Thr) variant of KCNE2 (Q9Y6J6)
I57T (p.Ile57Thr) in KCNE2 (Q9Y6J6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Cardiac arrhythmia; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
I57T (p.Ile57Thr) variant details
- p.Ile57Thr
- rs74315448
- ClinGen CA218805
- ClinVar RCV000006426
- ClinVar RCV000058362
- Conflicting interpretations
- Cardiovascular phenotype; Cardiac arrhythmia; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.86
- ESM-1b 0.00
- AlphaMissense 0.20
- MetaLR 0.75
- MetaSVM 0.63
- CADD 26.50
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Cardiac arrhythmia; not specified)
- EBI: Pathogenic (in LQT6)
- UniProt: Pathogenic (in LQT6)
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.066)
- Structural context available
- Cited in: MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. (PMID 10219239)
- Cited in: Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT… (PMID 16922724)