H245D (p.His245Asp) variant of STXBP1 (Syntaxin-binding protein 1)
H245D (p.His245Asp) in STXBP1 (Syntaxin-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Severe global developmental delay; Microcephaly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes structural context.
H245D (p.His245Asp) variant details
- p.His245Asp
- rs1554777480
- ClinGen CA374934012
- ClinVar RCV000626840
- Ensembl rs1554777480
- Pathogenic
- Severe global developmental delay; Microcephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- AlphaMissense 1.00
- MetaLR 0.78
- MetaSVM 0.78
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Pathogenic (Severe global developmental delay; Microcephaly)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available