N25Y (p.Asn25Tyr) variant of KCNE2 (Q9Y6J6)
N25Y (p.Asn25Tyr) 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 0.34 / 1. The record also includes population frequency data and structural context.
N25Y (p.Asn25Tyr) variant details
- p.Asn25Tyr
- TOPMed rs1384910348
- gnomAD rs1384910348
- Uncertain significance
- Long QT syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.61
- MetaSVM -0.21
- CADD 16.70
- ClinVar: Uncertain significance (Long QT syndrome 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available