Y125H (p.Tyr125His) variant of DCX (O43602)
Y125H (p.Tyr125His) 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 0.97 / 1. The record also includes published literature and structural context.
Y125H (p.Tyr125His) variant details
- p.Tyr125His
- rs104894781
- ClinGen CA121594
- ClinVar RCV000012359
- ClinVar RCV000012360
- Pathogenic
- Subcortical laminar heterotopia, X-linked; Lissencephaly type 1 due to doublecor
- Missense
- Variant Prioritization Score for Impact Estimate 0.967
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.11
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic (Subcortical laminar heterotopia, X-linked; Lissencephaly type 1)
- EBI: Pathogenic (in LISX1 and SBHX)
- UniProt: Pathogenic (in LISX1 and SBHX)
- Structural context available
- Cited in: A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and… (PMID 9489699)
- Cited in: DCX-Related Disorders. (PMID 20301364)