S74Y (p.Ser74Tyr) variant of KCNE2 (Q9Y6J6)
S74Y (p.Ser74Tyr) 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 0.60 / 1. The record also includes published literature and structural context.
S74Y (p.Ser74Tyr) variant details
- p.Ser74Tyr
- rs1979545359
- ClinGen CA410196716
- ClinVar RCV001302151
- Ensembl rs1979545359
- Uncertain significance
- Long QT syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- ESM-1b 0.00
- AlphaMissense 0.75
- MetaLR 0.90
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Long QT syndrome 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)