R89G (p.Arg89Gly) variant of DCX (O43602)
R89G (p.Arg89Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
R89G (p.Arg89Gly) variant details
- p.Arg89Gly
- rs104894785
- ClinGen CA121604
- ClinVar RCV000012372
- UniProt VAR 010536
- Pathogenic
- Subcortical laminar heterotopia, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- AlphaMissense 0.97
- MetaLR 0.86
- MetaSVM 0.84
- SIFT 0.00
- EVE 0.41
- ClinVar: Pathogenic (Subcortical laminar heterotopia, X-linked)
- EBI: Pathogenic (in SBHX)
- UniProt: Pathogenic (in SBHX)
- Structural context available
- Cited in: Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. (PMID 10441340)
- Cited in: Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia. (PMID 11175293)