Y83C (p.Tyr83Cys) variant of SCN1A (P35498)
Y83C (p.Tyr83Cys) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes structural context.
Y83C (p.Tyr83Cys) variant details
- p.Tyr83Cys
- rs1574371399
- ClinGen CA349242664
- cosmic curated COSV57685
- ClinVar RCV006464288
- Pathogenic
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- AlphaMissense 0.46
- MetaLR 0.95
- MetaSVM 1.12
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.32
- ClinVar: Pathogenic (Early-infantile DEE)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available