R59L (p.Arg59Leu) variant of DCX (O43602)
R59L (p.Arg59Leu) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Subcortical laminar heterotopia, X-linked; Lissencephaly type 1 due to doublecor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
R59L (p.Arg59Leu) variant details
- p.Arg59Leu
- rs122457137
- ClinGen CA121596
- ClinVar RCV000012362
- ClinVar RCV000012363
- Pathogenic
- Subcortical laminar heterotopia, X-linked; Lissencephaly type 1 due to doublecor
- Missense
- Variant Prioritization Score for Impact Estimate 0.935
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.08
- SIFT 0.03
- EVE 0.88
- ClinVar: Pathogenic (Subcortical laminar heterotopia, X-linked; Lissencephaly type 1)
- EBI: Pathogenic (in LISX1 and SBHX)
- UniProt: Pathogenic (in LISX1 and SBHX)
- Structural context available
- Cited in: Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a… (PMID 9489700)
- Cited in: DCX-Related Disorders. (PMID 20301364)