R5* (p.Arg5Ter) variant of KCNJ2 (P63252)
R5* (p.Arg5Ter) in KCNJ2 (P63252) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R5* (p.Arg5Ter) variant details
- p.Arg5Ter
- rs1042485
- ClinGen CA400859487
- NCI-TCGA Cosmic COSV9969
- cosmic curated COSV99696
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.6
- AlphaMissense 0.26
- MetaLR 0.37
- MetaSVM -0.38
- CADD 36.00
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-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)