R46C (p.Arg46Cys) variant of KCNJ2 (P63252)
R46C (p.Arg46Cys) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Short QT syndrome type 3; Andersen Tawil syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R46C (p.Arg46Cys) variant details
- p.Arg46Cys
- rs2074385043
- ClinGen CA400859943
- NCI-TCGA Cosmic COSV5466
- cosmic curated COSV54661
- Uncertain significance
- Short QT syndrome type 3; Andersen Tawil syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.59
- AlphaMissense 0.98
- MetaLR 0.41
- MetaSVM -0.35
- CADD 27.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Short QT syndrome type 3; Andersen Tawil syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)