R44K (p.Arg44Lys) variant of KCNJ2 (P63252)
R44K (p.Arg44Lys) 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 0.32 / 1. The record also includes published literature and structural context.
R44K (p.Arg44Lys) variant details
- p.Arg44Lys
- rs2144376473
- ClinGen CA400859928
- ClinVar RCV001925374
- Ensembl rs2144376473
- Uncertain significance
- Andersen Tawil syndrome; Short QT syndrome type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- AlphaMissense 0.09
- MetaLR 0.09
- MetaSVM -1.08
- PolyPhen-2 0.18
- SIFT 0.10
- EVE 0.33
- 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)