D597Y (p.Asp597Tyr) variant of CDH2 (Cadherin-2)
D597Y (p.Asp597Tyr) in CDH2 (Cadherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Agenesis of corpus callosum, cardiac, ocular, and genital syndrome; Axon pathfin. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
D597Y (p.Asp597Tyr) variant details
- p.Asp597Tyr
- rs1599011050
- ClinGen CA402107569
- ClinVar RCV001007454
- ClinVar RCV001195093
- Pathogenic
- Agenesis of corpus callosum, cardiac, ocular, and genital syndrome; Axon pathfin
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- AlphaMissense 0.95
- MetaLR 0.59
- MetaSVM 0.31
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Pathogenic (Agenesis of corpus callosum, cardiac, ocular, and genital syndro)
- EBI: Pathogenic (in ACOGS)
- UniProt: Pathogenic (in ACOGS)
- Structural context available
- Cited in: De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon… (PMID 31585109)
- Cited in: Novel variants in CDH2 are associated with a new syndrome including Peters anomaly. (PMID 31650526)