N81K (p.Asn81Lys) variant of KCNE2 (Q9Y6J6)
N81K (p.Asn81Lys) in KCNE2 (Q9Y6J6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Long QT syndrome 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes published literature and structural context.
N81K (p.Asn81Lys) variant details
- p.Asn81Lys
- rs2516741131
- ClinGen CA410196792
- ClinVar RCV002829479
- ClinVar RCV003308301
- Uncertain significance
- Cardiovascular phenotype; Long QT syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- ESM-1b 0.00
- AlphaMissense 0.14
- ClinVar: Uncertain significance (Cardiovascular phenotype; Long QT syndrome 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)