T309I (p.Thr309Ile) variant of KCNJ2 (P63252)
T309I (p.Thr309Ile) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
T309I (p.Thr309Ile) variant details
- p.Thr309Ile
- rs199473388
- ClinGen CA329714
- ClinVar RCV000058338
- ClinVar RCV002513764
- Pathogenic
- Andersen Tawil syndrome; Short QT syndrome type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.81
- MetaLR 0.85
- MetaSVM 0.77
- CADD 22.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Andersen Tawil syndrome; Short QT syndrome type 3)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)