R5G (p.Arg5Gly) variant of KCNJ2 (P63252)
R5G (p.Arg5Gly) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Short QT syndrome type 3; Andersen Tawil syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
R5G (p.Arg5Gly) variant details
- p.Arg5Gly
- rs1042485
- ClinGen CA293702895
- ClinVar RCV002512440
- gnomAD rs1042485
- Uncertain significance
- Short QT syndrome type 3; Andersen Tawil syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- AlphaMissense 0.26
- MetaLR 0.37
- MetaSVM -0.38
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.76
- ClinVar: Uncertain significance (Short QT syndrome type 3; Andersen Tawil syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)