R82W (p.Arg82Trp) variant of KCNJ2 (P63252)
R82W (p.Arg82Trp) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Cardiovascular phenotype; Andersen Tawil syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R82W (p.Arg82Trp) variant details
- p.Arg82Trp
- rs199473373
- ClinGen CA145013
- NCI-TCGA Cosmic COSV5466
- cosmic curated COSV54664
- Pathogenic
- not provided; Cardiovascular phenotype; Andersen Tawil syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.96
- MetaLR 0.94
- MetaSVM 1.07
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Cardiovascular phenotype; Andersen Tawil syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- 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)