D62N (p.Asp62Asn) variant of DCX (O43602)
D62N (p.Asp62Asn) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
D62N (p.Asp62Asn) variant details
- p.Asp62Asn
- rs104894779
- ClinGen CA121589
- NCI-TCGA Cosmic COSV5756
- cosmic curated COSV57568
- Pathogenic/Likely pathogenic
- Lissencephaly type 1 due to doublecortin gene mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.08
- SIFT 0.03
- EVE 0.69
- ClinVar: Pathogenic/Likely pathogenic (Lissencephaly type 1 due to doublecortin gene mutation)
- EBI: Pathogenic (in LISX1 and SBHX)
- UniProt: Pathogenic (in LISX1 and SBHX)
- Structural context available
- Cited in: A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and… (PMID 9489699)
- Cited in: DCX-Related Disorders. (PMID 20301364)