G300V (p.Gly300Val) variant of KCNJ2 (P63252)
G300V (p.Gly300Val) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiovascular phenotype; not provided; Andersen Tawil syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
G300V (p.Gly300Val) variant details
- p.Gly300Val
- rs104894579
- ClinGen CA254594
- ClinVar RCV000009475
- ClinVar RCV000058332
- Pathogenic
- Cardiovascular phenotype; not provided; Andersen Tawil syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- AlphaMissense 0.98
- MetaLR 0.90
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.55
- ClinVar: Pathogenic (Cardiovascular phenotype; not provided; Andersen Tawil syndrome)
- EBI: Pathogenic (in LQT7)
- UniProt: Pathogenic (in LQT7)
- Structural context available
- Cited in: Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. (PMID 11371347)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)