S42Y (p.Ser42Tyr) variant of STXBP1 (Syntaxin-binding protein 1)
S42Y (p.Ser42Tyr) in STXBP1 (Syntaxin-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Infantile epilepsy syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes structural context.
S42Y (p.Ser42Tyr) variant details
- p.Ser42Tyr
- rs1840655911
- ClinGen CA375176251
- ClinVar RCV001265296
- Ensembl rs1840655911
- Likely pathogenic
- Infantile epilepsy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- AlphaMissense 0.99
- MetaLR 0.79
- MetaSVM 0.75
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Likely pathogenic (Infantile epilepsy syndrome)
- EBI: Likely pathogenic (in DEE4)
- UniProt: Likely pathogenic (in DEE4)
- Structural context available