S5P (p.Ser5Pro) variant of KCNE2 (Q9Y6J6)
S5P (p.Ser5Pro) in KCNE2 (Q9Y6J6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Atrial fibrillation, familial, 4; Long QT syndrome 6; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature and structural context.
S5P (p.Ser5Pro) variant details
- p.Ser5Pro
- rs2123423458
- ClinGen CA410196092
- ClinVar RCV001582409
- ClinVar RCV001866209
- Uncertain significance
- Atrial fibrillation, familial, 4; Long QT syndrome 6; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.52
- MetaSVM -0.44
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (Atrial fibrillation, familial, 4; Long QT syndrome 6; not specif)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)