A1641T (p.Ala1641Thr) variant of SCN1A (Nav1.1)
A1641T (p.Ala1641Thr) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Developmental and epileptic encephalopathy 6B; Generalized epilepsy with febrile. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes structural context.
A1641T (p.Ala1641Thr) variant details
- p.Ala1641Thr
- rs2105434822
- ClinGen CA349070228
- ClinVar RCV006468577
- Ensembl rs2105434822
- Pathogenic
- Developmental and epileptic encephalopathy 6B; Generalized epilepsy with febrile
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- AlphaMissense 0.97
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy 6B; Generalized epile)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available