R186C (p.Arg186Cys) variant of DCX (O43602)
R186C (p.Arg186Cys) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Ectopic tissue. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
R186C (p.Arg186Cys) variant details
- p.Arg186Cys
- rs587783562
- ClinGen CA171992
- NCI-TCGA Cosmic COSV5756
- cosmic curated COSV57565
- Pathogenic
- not provided; Ectopic tissue
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- AlphaMissense 0.99
- MetaLR 0.91
- MetaSVM 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Pathogenic (not provided; Ectopic tissue)
- EBI: Pathogenic (in SBHX)
- UniProt: Pathogenic (in SBHX)
- Structural context available
- Cited in: A novel mutation of the doublecortin gene in Japanese patients with X-linked lissencephaly and subcortical band… (PMID 10369164)
- Cited in: Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia. (PMID 11175293)