P1519T (p.Pro1519Thr) variant of SCN1A (Nav1.1)
P1519T (p.Pro1519Thr) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Early-infantile DEE; Generalized epilepsy with febrile seizures plus, type 2; Se. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
P1519T (p.Pro1519Thr) variant details
- p.Pro1519Thr
- rs796053021
- ClinGen CA317497
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10032
- Pathogenic/Likely pathogenic
- Early-infantile DEE; Generalized epilepsy with febrile seizures plus, type 2; Se
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- AlphaMissense 0.13
- MetaLR 0.78
- MetaSVM 0.30
- CADD 26.40
- PolyPhen-2 0.10
- SIFT 0.28
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; Generalized epilepsy with febrile seizures)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)