R312C (p.Arg312Cys) variant of KCNJ2 (P63252)
R312C (p.Arg312Cys) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Andersen Tawil syndrome; Short QT syndrome type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R312C (p.Arg312Cys) variant details
- p.Arg312Cys
- rs199473389
- ClinGen CA329717
- cosmic curated COSV54662
- ClinVar RCV000058339
- Pathogenic/Likely pathogenic
- not provided; Andersen Tawil syndrome; Short QT syndrome type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.94
- MetaLR 0.94
- MetaSVM 1.08
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Andersen Tawil syndrome; Short QT syndrome type 3)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- 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)