R178C (p.Arg178Cys) variant of DCX (O43602)
R178C (p.Arg178Cys) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Lissencephaly type 1 due to doublecortin gene mutation; Ectopic ti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
R178C (p.Arg178Cys) variant details
- p.Arg178Cys
- rs587783558
- ClinGen CA171980
- cosmic curated COSV57565
- ClinVar RCV000145854
- Pathogenic/Likely pathogenic
- not provided; Lissencephaly type 1 due to doublecortin gene mutation; Ectopic ti
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- AlphaMissense 0.92
- MetaLR 0.86
- MetaSVM 0.91
- SIFT 0.00
- EVE 0.65
- ClinVar: Pathogenic/Likely pathogenic (not provided; Lissencephaly type 1 due to doublecortin gene muta)
- EBI: Pathogenic (in SBHX)
- UniProt: Pathogenic (in SBHX)
- Structural context available
- Cited in: Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females. (PMID 12390976)
- Cited in: DCX-Related Disorders. (PMID 20301364)