N81S (p.Asn81Ser) variant of KCNE2 (Q9Y6J6)
N81S (p.Asn81Ser) 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; Atrial fibrillation, familial, 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
N81S (p.Asn81Ser) variant details
- p.Asn81Ser
- rs1434304789
- ClinGen CA410196790
- ClinVar RCV001228752
- ClinVar RCV002447147
- Uncertain significance
- Cardiovascular phenotype; Long QT syndrome 6; Atrial fibrillation, familial, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.64
- MetaSVM 0.13
- CADD 22.20
- ClinVar: Uncertain significance (Cardiovascular phenotype; Long QT syndrome 6; Atrial fibrillatio)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)