I11V (p.Ile11Val) variant of KCNJ2 (P63252)
I11V (p.Ile11Val) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Andersen Tawil syndrome; Short QT syndrome type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes published literature and structural context.
I11V (p.Ile11Val) variant details
- p.Ile11Val
- rs879760912
- ClinGen CA293702896
- ClinVar RCV002937642
- Ensembl rs879760912
- Uncertain significance
- Andersen Tawil syndrome; Short QT syndrome type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- AlphaMissense 0.06
- MetaLR 0.10
- MetaSVM -1.04
- PolyPhen-2 0.00
- SIFT 0.07
- MutPred 0.71
- ClinVar: Uncertain significance (Andersen Tawil syndrome; Short QT syndrome type 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)