R41C (p.Arg41Cys) variant of KCNJ5 (P48544)
R41C (p.Arg41Cys) in KCNJ5 (P48544) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Cardiovascular phenotype; Primary dilated cardiomyopathy; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R41C (p.Arg41Cys) variant details
- p.Arg41Cys
- rs115012103
- ClinGen CA334593
- cosmic curated COSV57963
- ClinVar RCV000168312
- Benign/Likely benign
- Cardiovascular phenotype; Primary dilated cardiomyopathy; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.45
- MetaLR 0.62
- MetaSVM 0.05
- CADD 25.50
- PolyPhen-2 0.55
- SIFT 0.10
- ClinVar: Benign/Likely benign (Cardiovascular phenotype; Primary dilated cardiomyopathy; Long Q)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:ACB population (allele frequency 0.043)
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)