R89Q (p.Arg89Gln) variant of DCX (O43602)
R89Q (p.Arg89Gln) 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 0.91 / 1. The record also includes published literature and structural context.
R89Q (p.Arg89Gln) variant details
- p.Arg89Gln
- rs61729440
- ClinGen CA414246760
- NCI-TCGA Cosmic COSV5757
- cosmic curated COSV57571
- Pathogenic
- Lissencephaly type 1 due to doublecortin gene mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- AlphaMissense 1.00
- MetaLR 0.90
- MetaSVM 1.02
- SIFT 0.00
- EVE 0.86
- ClinVar: Pathogenic (Lissencephaly type 1 due to doublecortin gene mutation)
- EBI: Pathogenic (in SBHX)
- UniProt: Pathogenic (in SBHX)
- Structural context available
- Cited in: DCX-Related Disorders. (PMID 20301364)