T10M (p.Thr10Met) variant of KCNE2 (Q9Y6J6)
T10M (p.Thr10Met) in KCNE2 (Q9Y6J6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Long QT syndrome 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
T10M (p.Thr10Met) variant details
- p.Thr10Met
- rs199473648
- ClinGen CA199792
- ClinVar RCV000058373
- ClinVar RCV000171565
- Conflicting interpretations
- not specified; not provided; Long QT syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.54
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.67
- MetaSVM 0.02
- CADD 18.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Long QT syndrome 6)
- EBI: Benign
- UniProt: Benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.006)
- Structural context available
- 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)