C54F (p.Cys54Phe) variant of KCNJ2 (P63252)
C54F (p.Cys54Phe) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Andersen Tawil syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
C54F (p.Cys54Phe) variant details
- p.Cys54Phe
- rs199473650
- ClinGen CA145011
- ClinVar RCV000023027
- ClinVar RCV000058293
- Likely pathogenic
- Andersen Tawil syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- AlphaMissense 0.97
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.52
- ClinVar: Likely pathogenic (Andersen Tawil syndrome)
- EBI: Pathogenic (in LQT7)
- UniProt: Pathogenic (in LQT7)
- Structural context available
- Cited in: Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred. (PMID 17324964)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)