G144S (p.Gly144Ser) variant of KCNJ2 (P63252)
G144S (p.Gly144Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G144S (p.Gly144Ser) variant details
- p.Gly144Ser
- rs199473378
- ClinGen CA329666
- ClinVar RCV000058311
- ClinVar RCV001382882
- Pathogenic
- Andersen Tawil syndrome; Short QT syndrome type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- REVEL 0.97
- MetaLR 1.00
- MetaSVM 0.92
- CADD 27.50
- SIFT 0.05
- ClinVar: Pathogenic (Andersen Tawil syndrome; Short QT syndrome type 3)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)