R59H (p.Arg59His) variant of DCX (O43602)
R59H (p.Arg59His) in DCX (O43602) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in SBHX. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
R59H (p.Arg59His) variant details
- p.Arg59His
- rs122457137
- ClinGen CA171866
- NCI-TCGA Cosmic COSV5757
- cosmic curated COSV57575
- Pathogenic
- in SBHX
- Missense
- Variant Prioritization Score for Impact Estimate 0.935
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.08
- SIFT 0.03
- EVE 0.88
- EBI: Pathogenic (in SBHX)
- UniProt: Pathogenic (in SBHX)
- Structural context available
- Cited in: Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia. (PMID 11175293)
- Cited in: DCX-Related Disorders. (PMID 20301364)