I68S (p.Ile68Ser) variant of SCN1A (P35498)
I68S (p.Ile68Ser) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes structural context.
I68S (p.Ile68Ser) variant details
- p.Ile68Ser
- rs758871507
- ClinGen CA317804
- ClinVar RCV000189089
- ClinVar RCV006461937
- Likely pathogenic
- not provided; Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- AlphaMissense 0.38
- MetaLR 0.91
- MetaSVM 1.08
- PolyPhen-2 0.98
- SIFT 0.01
- EVE 0.36
- ClinVar: Likely pathogenic (not provided; Early-infantile DEE)
- EBI: Likely pathogenic (in DRVT)
- UniProt: Likely pathogenic (in DRVT)
- Structural context available