R41H (p.Arg41His) variant of KCNJ5 (P48544)
R41H (p.Arg41His) 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; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R41H (p.Arg41His) variant details
- p.Arg41His
- rs139073333
- ClinGen CA6357825
- cosmic curated COSV57963
- ClinVar RCV000543826
- Benign/Likely benign
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.24
- MetaLR 0.48
- MetaSVM -0.72
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.55
- ClinVar: Benign/Likely benign (Cardiovascular phenotype; not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- 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)