Y68C (p.Tyr68Cys) variant of KCNJ2 (P63252)
Y68C (p.Tyr68Cys) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Andersen Tawil syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
Y68C (p.Tyr68Cys) variant details
- p.Tyr68Cys
- rs2144376588
- ClinGen CA400860098
- cosmic curated COSV54661
- ClinVar RCV002251102
- Uncertain significance
- Andersen Tawil syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.957
- AlphaMissense 0.94
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Uncertain significance (Andersen Tawil syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)