A251S (p.Ala251Ser) variant of DCX (O43602)
A251S (p.Ala251Ser) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Ectopic tissue. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
A251S (p.Ala251Ser) variant details
- p.Ala251Ser
- rs587783585
- ClinGen CA172066
- ClinVar RCV000145888
- ClinVar RCV001857505
- Pathogenic
- not provided; Ectopic tissue
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- AlphaMissense 0.97
- MetaLR 0.56
- MetaSVM 0.27
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic (not provided; Ectopic tissue)
- 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: A novel mutation of the doublecortin gene in Japanese patients with X-linked lissencephaly and subcortical band… (PMID 10369164)