K50R (p.Lys50Arg) variant of KCNJ2 (P63252)
K50R (p.Lys50Arg) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Atrial fibrillation, familial, 9; Short QT syndrome type 3; Andersen Tawil syndr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
K50R (p.Lys50Arg) variant details
- p.Lys50Arg
- rs2144376499
- ClinGen CA400859973
- ClinVar RCV001928935
- ClinVar RCV002484575
- Uncertain significance
- Atrial fibrillation, familial, 9; Short QT syndrome type 3; Andersen Tawil syndr
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- AlphaMissense 0.45
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.50
- ClinVar: Uncertain significance (Atrial fibrillation, familial, 9; Short QT syndrome type 3; Ande)
- 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)