N32K (p.Asn32Lys) variant of KCNJ2 (P63252)
N32K (p.Asn32Lys) 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
N32K (p.Asn32Lys) variant details
- p.Asn32Lys
- rs67120636
- ClinGen CA400859854
- ClinVar RCV003784904
- Uncertain significance
- Andersen Tawil syndrome; Short QT syndrome type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.28
- MetaLR 0.13
- MetaSVM -0.62
- CADD 13.30
- PolyPhen-2 0.83
- SIFT 0.03
- ClinVar: Uncertain significance (Andersen Tawil syndrome; Short QT syndrome type 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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)