R46H (p.Arg46His) variant of KCNJ2 (P63252)
R46H (p.Arg46His) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Andersen Tawil syndrome; Short QT syndrome type 3; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R46H (p.Arg46His) variant details
- p.Arg46His
- rs1271319212
- ClinGen CA400859944
- ClinVar RCV003149379
- ClinVar RCV005215990
- Uncertain significance
- Andersen Tawil syndrome; Short QT syndrome type 3; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.65
- MetaLR 0.41
- MetaSVM -0.35
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Andersen Tawil syndrome; Short QT syndrome type 3; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)