R218W (p.Arg218Trp) variant of KCNJ2 (P63252)
R218W (p.Arg218Trp) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Andersen Tawil syndrome; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
R218W (p.Arg218Trp) variant details
- p.Arg218Trp
- rs104894578
- ClinGen CA302041
- NCI-TCGA Cosmic COSV5466
- cosmic curated COSV54662
- Conflicting interpretations
- not provided; Andersen Tawil syndrome; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.977
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Conflicting classifications of pathogenicity (not provided; Andersen Tawil syndrome; Short QT syndrome type 3)
- EBI: Pathogenic (in LQT7)
- UniProt: Pathogenic (in LQT7)
- Structural context available
- Cited in: Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. (PMID 11371347)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)