R76G (p.Arg76Gly) variant of DCX (O43602)
R76G (p.Arg76Gly) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.86 / 1. The record also includes published literature and structural context.
R76G (p.Arg76Gly) variant details
- p.Arg76Gly
- rs587783534
- ClinGen CA414246842
- ClinVar RCV000760181
- gnomAD rs587783534
- Pathogenic
- Lissencephaly type 1 due to doublecortin gene mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- AlphaMissense 1.00
- MetaLR 0.84
- MetaSVM 0.79
- SIFT 0.00
- EVE 0.83
- ClinVar: Pathogenic (Lissencephaly type 1 due to doublecortin gene mutation)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: DCX-Related Disorders. (PMID 20301364)