R196H (p.Arg196His) variant of DCX (O43602)
R196H (p.Arg196His) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; not provided; Lissencephaly type 1 due to doublecortin. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R196H (p.Arg196His) variant details
- p.Arg196His
- rs56030372
- ClinGen CA121606
- NCI-TCGA Cosmic COSV5756
- cosmic curated COSV57566
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; Lissencephaly type 1 due to doublecortin
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- AlphaMissense 1.00
- MetaLR 0.51
- MetaSVM 0.14
- CADD 26.70
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; Lissencephaly type 1 due)
- EBI: Pathogenic (in LISX1)
- UniProt: Pathogenic (in LISX1)
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Cited in: Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia. (PMID 11175293)
- Cited in: Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene. (PMID 11468322)