P79L (p.Pro79Leu) variant of STXBP1 (Syntaxin-binding protein 1)
P79L (p.Pro79Leu) 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 Developmental and epileptic encephalopathy, 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
P79L (p.Pro79Leu) variant details
- p.Pro79Leu
- rs1588302912
- ClinGen CA375176513
- ClinVar RCV000988248
- Ensembl rs1588302912
- Likely pathogenic
- Developmental and epileptic encephalopathy, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- AlphaMissense 0.99
- MetaLR 0.88
- MetaSVM 1.00
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.94
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy, 4)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: STXBP1 Encephalopathy with Epilepsy. (PMID 27905812)