S80P (p.Ser80Pro) variant of STXBP1 (Syntaxin-binding protein 1)
S80P (p.Ser80Pro) in STXBP1 (Syntaxin-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Intellectual disability; Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
S80P (p.Ser80Pro) variant details
- p.Ser80Pro
- rs1840867221
- ClinGen CA375176515
- ClinVar RCV001260827
- ClinVar RCV006557278
- Uncertain significance
- Intellectual disability; Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- AlphaMissense 0.92
- MetaLR 0.48
- MetaSVM -0.06
- PolyPhen-2 0.24
- SIFT 0.01
- EVE 0.66
- ClinVar: Uncertain significance (Intellectual disability; Early-infantile DEE)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. (PMID 23708187)
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)