S42P (p.Ser42Pro) variant of STXBP1 (Syntaxin-binding protein 1)
S42P (p.Ser42Pro) in STXBP1 (Syntaxin-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes structural context.
S42P (p.Ser42Pro) variant details
- p.Ser42Pro
- rs886041668
- ClinGen CA10603014
- ClinVar RCV000334893
- ClinVar RCV001265295
- Pathogenic/Likely pathogenic
- not provided; Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- AlphaMissense 1.00
- MetaLR 0.80
- MetaSVM 0.84
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic/Likely pathogenic (not provided; Early-infantile DEE)
- EBI: Pathogenic (in DEE4)
- UniProt: Pathogenic (in DEE4)
- Structural context available