S47R (p.Ser47Arg) variant of DCX (O43602)
S47R (p.Ser47Arg) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of DCX-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
S47R (p.Ser47Arg) variant details
- p.Ser47Arg
- rs104894783
- ClinGen CA121600
- ClinVar RCV000012366
- ClinVar RCV000012367
- Conflicting interpretations
- DCX-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- AlphaMissense 0.99
- MetaLR 0.15
- MetaSVM -0.80
- SIFT 0.00
- EVE 0.38
- ClinVar: Conflicting classifications of pathogenicity (DCX-related disorder; not provided)
- EBI: Pathogenic (in LISX1 and SBHX)
- UniProt: Pathogenic (in LISX1 and SBHX)
- Structural context available
- Cited in: Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia. (PMID 11175293)
- Cited in: Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a… (PMID 9489700)