R192W (p.Arg192Trp) variant of DCX (O43602)
R192W (p.Arg192Trp) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Lissencephaly type 1 due to doublecortin gene mutation; not provided; Ectopic ti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
R192W (p.Arg192Trp) variant details
- p.Arg192Trp
- rs104894780
- ClinGen CA121591
- ClinVar RCV000012357
- ClinVar RCV000012358
- Pathogenic/Likely pathogenic
- Lissencephaly type 1 due to doublecortin gene mutation; not provided; Ectopic ti
- Missense
- Variant Prioritization Score for Impact Estimate 0.921
- AlphaMissense 1.00
- MetaLR 0.88
- MetaSVM 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic/Likely pathogenic (Lissencephaly type 1 due to doublecortin gene mutation; not prov)
- EBI: Pathogenic (in LISX1 and SBHX)
- UniProt: Pathogenic (in LISX1 and SBHX)
- Structural context available
- Cited in: Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia. (PMID 11175293)
- Cited in: A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and… (PMID 9489699)