Y145C (p.Tyr145Cys) variant of KCNJ2 (P63252)
Y145C (p.Tyr145Cys) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Short QT syndrome type 3; Andersen Tawil syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
Y145C (p.Tyr145Cys) variant details
- p.Tyr145Cys
- rs2074387117
- ClinGen CA400860589
- ClinVar RCV001064131
- Ensembl rs2074387117
- Pathogenic
- Short QT syndrome type 3; Andersen Tawil syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.98
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Pathogenic (Short QT syndrome type 3; Andersen Tawil syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)