V30M (p.Val30Met) variant of STXBP1 (Syntaxin-binding protein 1)
V30M (p.Val30Met) 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 0.84 / 1. The record also includes structural context.
V30M (p.Val30Met) variant details
- p.Val30Met
- rs1840653229
- ClinGen CA375176169
- ClinVar RCV006466346
- Ensembl rs1840653229
- Likely pathogenic
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- AlphaMissense 0.95
- MetaLR 0.78
- MetaSVM 0.81
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.86
- ClinVar: Likely pathogenic (Early-infantile DEE)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available