V18M (p.Val18Met) variant of STXBP1 (Syntaxin-binding protein 1)
V18M (p.Val18Met) in STXBP1 (Syntaxin-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes structural context.
V18M (p.Val18Met) variant details
- p.Val18Met
- rs2132436612
- ClinGen CA375176070
- ClinVar RCV006468987
- Ensembl rs2132436612
- Likely benign
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- AlphaMissense 0.84
- MetaLR 0.61
- MetaSVM 0.29
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Likely benign (Early-infantile DEE)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available