K64R (p.Lys64Arg) variant of KCNJ2 (P63252)
K64R (p.Lys64Arg) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Andersen Tawil syndrome; Short QT syndrome type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
K64R (p.Lys64Arg) variant details
- p.Lys64Arg
- rs2144376559
- ClinGen CA400860074
- ClinVar RCV001976353
- Ensembl rs2144376559
- Uncertain significance
- Andersen Tawil syndrome; Short QT syndrome type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- AlphaMissense 0.09
- MetaLR 0.68
- MetaSVM 0.19
- PolyPhen-2 0.16
- SIFT 0.50
- EVE 0.18
- ClinVar: Uncertain significance (Andersen Tawil syndrome; Short QT syndrome type 3)
- 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)