M145T (p.Met145Thr) variant of SCN1A (Nav1.1)
M145T (p.Met145Thr) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Generalized epilepsy with febrile seizures plus, type 2; Severe myoclonic epilep. 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.
M145T (p.Met145Thr) variant details
- p.Met145Thr
- rs121918631
- ClinGen CA256617
- ClinVar RCV000013758
- ClinVar RCV000255880
- Pathogenic
- Generalized epilepsy with febrile seizures plus, type 2; Severe myoclonic epilep
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.09
- CADD 26.30
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic (Generalized epilepsy with febrile seizures plus, type 2; Severe)
- EBI: Pathogenic (in FEB3A)
- UniProt: Pathogenic (in FEB3A)
- Population evidence available
- Structural context available
- Cited in: Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile… (PMID 16326807)
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)