P113R (p.Pro113Arg) variant of SCN1A (P35498)
P113R (p.Pro113Arg) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Severe myoclonic epilepsy in infancy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
P113R (p.Pro113Arg) variant details
- p.Pro113Arg
- rs1553553462
- ClinGen CA349076981
- ClinVar RCV000585829
- Ensembl rs1553553462
- Likely pathogenic
- Severe myoclonic epilepsy in infancy
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- AlphaMissense 0.98
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.76
- ClinVar: Likely pathogenic (Severe myoclonic epilepsy in infancy)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)