R8C (p.Arg8Cys) variant of KCNJ2 (P63252)
R8C (p.Arg8Cys) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not specified; Atrial fibrillation, familial, 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R8C (p.Arg8Cys) variant details
- p.Arg8Cys
- rs529080615
- ClinGen CA8738680
- NCI-TCGA Cosmic COSV9969
- cosmic curated COSV99696
- Uncertain significance
- Cardiovascular phenotype; not specified; Atrial fibrillation, familial, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.28
- MetaLR 0.26
- MetaSVM -0.75
- CADD 28.90
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; not specified; Atrial fibrillation, fa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- 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)