R190Q (p.Arg190Gln) variant of STXBP1 (Syntaxin-binding protein 1)
R190Q (p.Arg190Gln) in STXBP1 (Syntaxin-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Early-infantile DEE; Epilepsy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
R190Q (p.Arg190Gln) variant details
- p.Arg190Gln
- rs796053356
- ClinGen CA318852
- ClinVar RCV000189600
- ClinVar RCV001003592
- Conflicting interpretations
- Inborn genetic diseases; Early-infantile DEE; Epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- AlphaMissense 0.96
- MetaLR 0.79
- MetaSVM 0.83
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Early-infantile DEE; Epilepsy)
- EBI: Pathogenic (in DEE4)
- UniProt: Pathogenic (in DEE4)
- Structural context available
- Cited in: Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental… (PMID 20466091)
- Cited in: Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a… (PMID 34131312)