Y75C (p.Tyr75Cys) variant of STXBP1 (Syntaxin-binding protein 1)
Y75C (p.Tyr75Cys) 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 Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
Y75C (p.Tyr75Cys) variant details
- p.Tyr75Cys
- rs796053352
- ClinGen CA318845
- ClinVar RCV001265425
- ClinVar RCV006555645
- Likely pathogenic
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- AlphaMissense 0.93
- MetaLR 0.83
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Likely pathogenic (Early-infantile DEE)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available