R219T (p.Arg219Thr) variant of SCN1A (Nav1.1)
R219T (p.Arg219Thr) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Genetic developmental and epileptic encephalopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes structural context.
R219T (p.Arg219Thr) variant details
- p.Arg219Thr
- rs796052960
- ClinGen CA317144
- ClinVar RCV000188839
- ClinVar RCV006461879
- Likely pathogenic
- Genetic developmental and epileptic encephalopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.934
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Likely pathogenic (Genetic developmental and epileptic encephalopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available