A71S (p.Ala71Ser) variant of DCX (O43602)
A71S (p.Ala71Ser) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Subcortical laminar heterotopia, X-linked; Lissencephaly type 1 due to doublecor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
A71S (p.Ala71Ser) variant details
- p.Ala71Ser
- rs104894786
- ClinGen CA121609
- ClinVar RCV000012375
- ClinVar RCV000012376
- Pathogenic
- Subcortical laminar heterotopia, X-linked; Lissencephaly type 1 due to doublecor
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- AlphaMissense 0.91
- MetaLR 0.90
- MetaSVM 0.98
- SIFT 0.05
- EVE 0.59
- ClinVar: Pathogenic (Subcortical laminar heterotopia, X-linked; Lissencephaly type 1)
- EBI: Pathogenic (in LISX1)
- UniProt: Pathogenic (in LISX1)
- Structural context available
- Cited in: Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders. (PMID 12552055)
- Cited in: DCX-Related Disorders. (PMID 20301364)