N6S (p.Asn6Ser) variant of KCNE2 (Q9Y6J6)
N6S (p.Asn6Ser) 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; Atrial fibrillation, familial, 4; Long QT syndrome 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
N6S (p.Asn6Ser) variant details
- p.Asn6Ser
- rs776661633
- ClinGen CA10013385
- ClinVar RCV001137161
- ClinVar RCV001139399
- Uncertain significance
- Cardiovascular phenotype; Atrial fibrillation, familial, 4; Long QT syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.56
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.82
- MetaSVM 0.85
- CADD 23.70
- ClinVar: Uncertain significance (Cardiovascular phenotype; Atrial fibrillation, familial, 4; Long)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)