G33R (p.Gly33Arg) variant of KCNJ2 (P63252)
G33R (p.Gly33Arg) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome; Andersen Tawil syndrome; Short QT syndrome type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
G33R (p.Gly33Arg) variant details
- p.Gly33Arg
- rs375727662
- ClinGen CA400859855
- cosmic curated COSV10503
- ClinVar RCV001508992
- Uncertain significance
- Long QT syndrome; Andersen Tawil syndrome; Short QT syndrome type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.38
- MetaLR 0.32
- MetaSVM -0.65
- CADD 24.20
- PolyPhen-2 0.12
- SIFT 0.01
- ClinVar: Uncertain significance (Long QT syndrome; Andersen Tawil syndrome; Short QT syndrome typ)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING 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)