K36E (p.Lys36Glu) variant of KCNJ2 (P63252)
K36E (p.Lys36Glu) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
K36E (p.Lys36Glu) variant details
- p.Lys36Glu
- rs2509920772
- ClinGen CA400859876
- ClinVar RCV003039560
- Uncertain significance
- Short QT syndrome type 3; Andersen Tawil syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.29
- MetaLR 0.15
- MetaSVM -0.90
- CADD 23.00
- PolyPhen-2 0.63
- SIFT 0.23
- ClinVar: Uncertain significance (Short QT syndrome type 3; Andersen Tawil syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)