S70N (p.Ser70Asn) variant of KCNE2 (Q9Y6J6)
S70N (p.Ser70Asn) in KCNE2 (Q9Y6J6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Long QT syndrome 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
S70N (p.Ser70Asn) variant details
- p.Ser70Asn
- rs751931568
- ClinGen CA236156
- ClinVar RCV000171348
- ClinVar RCV001049236
- Conflicting interpretations
- not provided; Long QT syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.61
- ESM-1b 0.00
- AlphaMissense 0.75
- MetaLR 0.90
- MetaSVM 0.99
- CADD 25.80
- ClinVar: Conflicting classifications of pathogenicity (not provided; Long QT syndrome 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0024)
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)