R312H (p.Arg312His) variant of KCNJ2 (P63252)
R312H (p.Arg312His) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; not provided; Andersen Tawil syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R312H (p.Arg312His) variant details
- p.Arg312His
- rs786205820
- ClinGen CA302070
- NCI-TCGA Cosmic COSV9969
- cosmic curated COSV99696
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; not provided; Andersen Tawil syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.95
- MetaLR 0.95
- MetaSVM 1.08
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; not provided; Andersen Tawil syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)