P113T (p.Pro113Thr) variant of SCN1A (P35498)
P113T (p.Pro113Thr) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Developmental and epileptic encephalopathy; not provided; Severe myoclonic epile. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
P113T (p.Pro113Thr) variant details
- p.Pro113Thr
- rs794726711
- ClinGen CA303135
- ClinVar RCV000180815
- ClinVar RCV000188831
- Pathogenic
- Developmental and epileptic encephalopathy; not provided; Severe myoclonic epile
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy; not provided; Severe)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Population evidence available
- Structural context available
- Cited in: Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. (PMID 25818041)
- Cited in: De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. (PMID 11359211)