T1210M (p.Thr1210Met) variant of SCN1A (Nav1.1)
T1210M (p.Thr1210Met) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Generalized epilepsy with febrile seizures plus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
T1210M (p.Thr1210Met) variant details
- p.Thr1210Met
- rs121918738
- ClinGen CA1942910
- cosmic curated COSV57675
- ClinVar RCV002453849
- Likely pathogenic
- Generalized epilepsy with febrile seizures plus
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- AlphaMissense 0.87
- MetaLR 0.79
- MetaSVM 0.58
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Generalized epilepsy with febrile seizures plus)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)