R78H (p.Arg78His) variant of DCX (O43602)
R78H (p.Arg78His) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
R78H (p.Arg78His) variant details
- p.Arg78His
- rs104894784
- ClinGen CA121602
- NCI-TCGA Cosmic COSV5757
- cosmic curated COSV57572
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- AlphaMissense 0.96
- MetaLR 0.91
- MetaSVM 1.03
- SIFT 0.00
- EVE 0.87
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in SBH)
- UniProt: Pathogenic (in SBH)
- Structural context available
- Cited in: Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. (PMID 10441340)