L41R (p.Leu41Arg) variant of STXBP1 (Syntaxin-binding protein 1)
L41R (p.Leu41Arg) 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 Developmental and epileptic encephalopathy, 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
L41R (p.Leu41Arg) variant details
- p.Leu41Arg
- rs2132444527
- ClinGen CA375176248
- ClinVar RCV001726699
- Ensembl rs2132444527
- Pathogenic
- Developmental and epileptic encephalopathy, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- AlphaMissense 0.99
- MetaLR 0.81
- MetaSVM 0.80
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.90
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy, 4)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: STXBP1 Encephalopathy with Epilepsy. (PMID 27905812)