K40T (p.Lys40Thr) variant of KCNE2 (Q9Y6J6)
K40T (p.Lys40Thr) 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 0.29 / 1. The record also includes published literature and structural context.
K40T (p.Lys40Thr) variant details
- p.Lys40Thr
- rs752190819
- ClinGen CA410196349
- ClinVar RCV003077157
- Uncertain significance
- Long QT syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.35
- MetaSVM -0.72
- PolyPhen-2 0.00
- SIFT 0.85
- 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)