R260H (p.Arg260His) variant of KCNJ2 (P63252)
R260H (p.Arg260His) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R260H (p.Arg260His) variant details
- p.Arg260His
- rs199473385
- ClinGen CA400862041
- NCI-TCGA Cosmic COSV5466
- cosmic curated COSV54664
- Likely pathogenic
- Andersen Tawil syndrome; Short QT syndrome type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.78
- AlphaMissense 0.93
- MetaLR 0.90
- MetaSVM 0.92
- CADD 28.50
- PolyPhen-2 0.99
- ClinVar: Likely pathogenic (Andersen Tawil syndrome; Short QT syndrome type 3)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-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)