D263G (p.Asp263Gly) variant of DCX (O43602)
D263G (p.Asp263Gly) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Lissencephaly type 1 due to doublecortin gene mutation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
D263G (p.Asp263Gly) variant details
- p.Asp263Gly
- rs1921404698
- ClinGen CA414241642
- ClinVar RCV001788520
- Ensembl rs1921404698
- Likely pathogenic
- Lissencephaly type 1 due to doublecortin gene mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- AlphaMissense 1.00
- MetaLR 0.40
- MetaSVM -0.24
- SIFT 0.03
- EVE 0.50
- ClinVar: Likely pathogenic (Lissencephaly type 1 due to doublecortin gene mutation)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: DCX-Related Disorders. (PMID 20301364)