I20N (p.Ile20Asn) variant of KCNE2 (Q9Y6J6)
I20N (p.Ile20Asn) in KCNE2 (Q9Y6J6) is a missense change. The available record places it in the context of Congenital long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
I20N (p.Ile20Asn) variant details
- p.Ile20Asn
- rs199473363
- ClinGen CA329756
- ClinVar RCV000058376
- UniProt VAR 074922
- not provided
- Congenital long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.54
- MetaSVM -0.33
- PolyPhen-2 0.06
- SIFT 0.01
- ClinVar: not provided (Congenital long QT syndrome)
- EBI: Variant of uncertain significance (in LQT6)
- UniProt: Uncertain significance (in LQT6)
- Structural context available
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)
- Cited in: MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. (PMID 10219239)