R218P (p.Arg218Pro) variant of KCNJ2 (P63252)
R218P (p.Arg218Pro) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Andersen Tawil syndrome; Short QT syndrome type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
R218P (p.Arg218Pro) variant details
- p.Arg218Pro
- rs199473384
- ClinGen CA400861474
- ClinVar RCV000493695
- ClinVar RCV001856985
- Likely pathogenic
- not provided; Andersen Tawil syndrome; Short QT syndrome type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.952
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Likely pathogenic (not provided; Andersen Tawil syndrome; Short QT syndrome type 3)
- EBI: Pathogenic (in LQT7)
- UniProt: Pathogenic (in LQT7)
- 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)