R8H (p.Arg8His) variant of KCNJ2 (P63252)
R8H (p.Arg8His) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Andersen Tawil syndrome; Short QT syndrome type 3; Atrial fibrillation, familial. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R8H (p.Arg8His) variant details
- p.Arg8His
- rs140090605
- ClinGen CA8738681
- ClinVar RCV001047780
- ClinVar RCV005394677
- Conflicting interpretations
- Andersen Tawil syndrome; Short QT syndrome type 3; Atrial fibrillation, familial
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.14
- MetaLR 0.10
- MetaSVM -1.07
- CADD 23.10
- PolyPhen-2 0.08
- SIFT 0.12
- ClinVar: Conflicting classifications of pathogenicity (Andersen Tawil syndrome; Short QT syndrome type 3; Atrial fibril)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.3e-05)
- 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)