L41Q (p.Leu41Gln) variant of STXBP1 (Syntaxin-binding protein 1)
L41Q (p.Leu41Gln) 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 0.86 / 1. The record also includes published literature and structural context.
L41Q (p.Leu41Gln) variant details
- p.Leu41Gln
- rs2132444527
- ClinGen CA375176246
- ClinVar RCV001004708
- Likely 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: Likely pathogenic (Developmental and epileptic encephalopathy, 4)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: STXBP1 Encephalopathy with Epilepsy. (PMID 27905812)