G18S (p.Gly18Ser) variant of KCNJ2 (P63252)
G18S (p.Gly18Ser) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Andersen Tawil syndrome; Short QT syndrome type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
G18S (p.Gly18Ser) variant details
- p.Gly18Ser
- rs947488726
- ClinGen CA293702897
- NCI-TCGA Cosmic COSV5466
- Uncertain significance
- Cardiovascular phenotype; Andersen Tawil syndrome; Short QT syndrome type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.48
- AlphaMissense 0.08
- MetaLR 0.33
- MetaSVM -0.52
- CADD 24.20
- PolyPhen-2 0.91
- ClinVar: Uncertain significance (Cardiovascular phenotype; Andersen Tawil syndrome; Short QT synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-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)