T192A (p.Thr192Ala) variant of KCNJ2 (P63252)
T192A (p.Thr192Ala) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Andersen Tawil syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
T192A (p.Thr192Ala) variant details
- p.Thr192Ala
- rs199473382
- ClinGen CA329687
- ClinVar RCV000058321
- ClinVar RCV001258374
- Pathogenic
- Andersen Tawil syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Pathogenic (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)