S140G (p.Ser140Gly) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
S140G (p.Ser140Gly) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Atrial fibrillation, familial, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
S140G (p.Ser140Gly) variant details
- p.Ser140Gly
- rs120074192
- ClinGen CA007037
- ClinVar RCV000003293
- ClinVar RCV000057673
- Pathogenic
- Atrial fibrillation, familial, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- ESM-1b 1.00
- AlphaMissense 0.64
- MetaLR 0.94
- MetaSVM 1.11
- PolyPhen-2 0.81
- SIFT 0.00
- ClinVar: Pathogenic (Atrial fibrillation, familial, 3)
- EBI: Pathogenic (in ATFB3)
- UniProt: Pathogenic (in ATFB3)
- Structural context available
- Cited in: KCNQ1 gain-of-function mutation in familial atrial fibrillation. (PMID 12522251)
- Cited in: Gating mechanisms underlying deactivation slowing by two KCNQ1 atrial fibrillation mutations. (PMID 28383569)