M54T (p.Met54Thr) variant of KCNE2 (Q9Y6J6)
M54T (p.Met54Thr) in KCNE2 (Q9Y6J6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting classifications of pathogenicity; ri in the context of Cardiovascular phenotype; KCNE2-related disorder; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
M54T (p.Met54Thr) variant details
- p.Met54Thr
- rs74315447
- ClinGen CA253741
- ClinVar RCV000006425
- ClinVar RCV000058360
- Conflicting classifications of pathogenicity; ri
- Cardiovascular phenotype; KCNE2-related disorder; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- REVEL 0.82
- ESM-1b 0.00
- AlphaMissense 0.27
- MetaLR 0.73
- MetaSVM 0.60
- CADD 25.10
- ClinVar: Conflicting classifications of pathogenicity; ri (Cardiovascular phenotype; KCNE2-related disorder; not specified)
- EBI: Pathogenic (in LQT6)
- UniProt: Pathogenic (in LQT6)
- Most common in the Ashkenazi Jewish population (allele frequency 0.0075)
- Structural context available
- Cited in: MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. (PMID 10219239)
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)