R39H (p.Arg39His) variant of KCNJ5 (P48544)
R39H (p.Arg39His) in KCNJ5 (P48544) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome 13; Familial hyperaldosteronism type III; Cardiovascular phenot. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R39H (p.Arg39His) variant details
- p.Arg39His
- rs560269341
- ClinGen CA6357822
- cosmic curated COSV57963
- ClinVar RCV002329981
- Uncertain significance
- Long QT syndrome 13; Familial hyperaldosteronism type III; Cardiovascular phenot
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.39
- MetaLR 0.67
- MetaSVM -0.48
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (Long QT syndrome 13; Familial hyperaldosteronism type III; Cardi)
- EBI: Variant of uncertain significance (in dbSNP:rs560269341)
- UniProt: Uncertain significance (in dbSNP:rs560269341)
- Most common in the HGDP:MAYA population (allele frequency 0.026)
- Structural context available
- Cited in: K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension. (PMID 21311022)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)