N216Y (p.Asn216Tyr) variant of KCNJ2 (P63252)
N216Y (p.Asn216Tyr) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Andersen Tawil syndrome; Short QT syndrome type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
N216Y (p.Asn216Tyr) variant details
- p.Asn216Tyr
- rs104894583
- ClinGen CA400861448
- ClinVar RCV002015482
- Ensembl rs104894583
- Likely pathogenic
- Andersen Tawil syndrome; Short QT syndrome type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.958
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Likely pathogenic (Andersen Tawil syndrome; Short QT syndrome type 3)
- EBI: Pathogenic (in LQT7)
- UniProt: Pathogenic (in LQT7)
- 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)