Y64N (p.Tyr64Asn) variant of DCX (O43602)
Y64N (p.Tyr64Asn) 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 0.75 / 1. The record also includes published literature and structural context.
Y64N (p.Tyr64Asn) variant details
- p.Tyr64Asn
- rs1556405129
- ClinGen CA414246919
- ClinVar RCV000656086
- Ensembl rs1556405129
- Likely pathogenic
- Lissencephaly type 1 due to doublecortin gene mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- AlphaMissense 0.99
- MetaLR 0.83
- MetaSVM 0.82
- SIFT 0.05
- EVE 0.47
- 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)