D353N (p.Asp353Asn) variant of CDH2 (Cadherin-2)
D353N (p.Asp353Asn) in CDH2 (Cadherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Corpus callosum, agenesis of. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
D353N (p.Asp353Asn) variant details
- p.Asp353Asn
- rs1599017933
- ClinGen CA402111677
- ClinVar RCV001007452
- ClinVar RCV001254682
- Likely pathogenic
- Corpus callosum, agenesis of
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- AlphaMissense 0.97
- MetaLR 0.75
- MetaSVM 0.58
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.97
- ClinVar: Likely pathogenic (Corpus callosum, agenesis of)
- 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)