R82Q (p.Arg82Gln) variant of KCNJ2 (P63252)
R82Q (p.Arg82Gln) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R82Q (p.Arg82Gln) variant details
- p.Arg82Gln
- rs199473653
- ClinGen CA329657
- cosmic curated COSV54664
- ClinVar RCV000058306
- Pathogenic
- not provided; Andersen Tawil syndrome; Short QT syndrome type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.94
- MetaLR 0.96
- MetaSVM 1.09
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Andersen Tawil syndrome; Short QT syndrome type 3)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- 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)