R6S (p.Arg6Ser) variant of KCNJ5 (P48544)
R6S (p.Arg6Ser) in KCNJ5 (P48544) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Familial hyperaldosteronism type III; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R6S (p.Arg6Ser) variant details
- p.Arg6Ser
- rs1944493093
- ClinGen CA383245183
- ClinVar RCV002408241
- ClinVar RCV005042828
- Uncertain significance
- Cardiovascular phenotype; Familial hyperaldosteronism type III; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.52
- MetaLR 0.64
- MetaSVM -0.32
- CADD 23.50
- SIFT 0.24
- ClinVar: Uncertain significance (Cardiovascular phenotype; Familial hyperaldosteronism type III;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)