C54G (p.Cys54Gly) variant of KCNJ2 (P63252)
C54G (p.Cys54Gly) 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 0.92 / 1. The record also includes published literature and structural context.
C54G (p.Cys54Gly) variant details
- p.Cys54Gly
- rs2144376507
- ClinGen CA400860001
- ClinVar RCV002042343
- Ensembl rs2144376507
- Uncertain significance
- Short QT syndrome type 3; Andersen Tawil syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- AlphaMissense 0.93
- MetaLR 0.92
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Uncertain significance (Short QT syndrome type 3; Andersen Tawil syndrome)
- EBI: Variant of uncertain significance (in LQT7)
- UniProt: Uncertain significance (in LQT7)
- 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)