H53R (p.His53Arg) variant of KCNJ2 (P63252)
H53R (p.His53Arg) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Andersen Tawil syndrome; Short QT syndrome type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
H53R (p.His53Arg) variant details
- p.His53Arg
- rs1598211051
- ClinGen CA400859995
- ClinVar RCV000793841
- ClinVar RCV006342555
- Uncertain significance
- Cardiovascular phenotype; Andersen Tawil syndrome; Short QT syndrome type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- AlphaMissense 0.10
- MetaLR 0.57
- MetaSVM -0.11
- PolyPhen-2 0.00
- SIFT 0.59
- EVE 0.17
- ClinVar: Uncertain significance (Cardiovascular phenotype; Andersen Tawil syndrome; Short QT synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)