M1T (p.Met1Thr) variant of KCNE2 (Q9Y6J6)
M1T (p.Met1Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs867658122
- ClinGen CA320365710
- ClinVar RCV000816121
- ClinVar RCV002487797
- Uncertain significance
- Atrial fibrillation, familial, 4; Long QT syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- ESM-1b 1.00
- AlphaMissense 0.44
- MetaLR 0.87
- MetaSVM 0.93
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Atrial fibrillation, familial, 4; Long QT syndrome 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)