V65M (p.Val65Met) variant of KCNE2 (Q9Y6J6)
V65M (p.Val65Met) in KCNE2 (Q9Y6J6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
V65M (p.Val65Met) variant details
- p.Val65Met
- rs199473364
- ClinGen CA329748
- ClinVar RCV000058364
- ClinVar RCV000464363
- Uncertain significance
- Long QT syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.69
- ESM-1b 0.00
- AlphaMissense 0.43
- MetaLR 0.85
- MetaSVM 0.82
- CADD 27.10
- ClinVar: Uncertain significance (Long QT syndrome 6)
- EBI: Pathogenic (in LQT6)
- UniProt: Pathogenic (in LQT6)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Identification and functional characterization of a novel KCNE2 (MiRP1) mutation that alters HERG channel kinetics. (PMID 12185453)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)