N94D (p.Asn94Asp) variant of DCX (O43602)
N94D (p.Asn94Asp) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Abnormal cortical gyration. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
N94D (p.Asn94Asp) variant details
- p.Asn94Asp
- rs797045512
- ClinGen CA205961
- ClinVar RCV000192850
- ClinVar RCV001542722
- Pathogenic
- Abnormal cortical gyration
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- AlphaMissense 0.67
- MetaLR 0.87
- MetaSVM 0.88
- SIFT 0.00
- EVE 0.69
- ClinVar: Pathogenic (Abnormal cortical gyration)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: DCX-Related Disorders. (PMID 20301364)