G144D (p.Gly144Asp) variant of KCNJ2 (P63252)
G144D (p.Gly144Asp) 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; Short QT syndrome type 3; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G144D (p.Gly144Asp) variant details
- p.Gly144Asp
- rs199473377
- ClinGen CA329669
- ClinVar RCV000058312
- ClinVar RCV000644780
- Pathogenic
- Andersen Tawil syndrome; Short QT syndrome type 3; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.983
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Pathogenic (Andersen Tawil syndrome; Short QT syndrome type 3; not provided)
- 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)