V162D (p.Val162Asp) variant of CDH2 (Cadherin-2)
V162D (p.Val162Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
V162D (p.Val162Asp) variant details
- p.Val162Asp
- rs2013111940
- ClinGen CA402243868
- ClinVar RCV001195098
- UniProt VAR 084438
- Pathogenic
- Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- AlphaMissense 0.99
- MetaLR 0.53
- MetaSVM 0.24
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Pathogenic (Agenesis of corpus callosum, cardiac, ocular, and genital syndro)
- EBI: Pathogenic (in ACOGS)
- UniProt: Pathogenic (in ACOGS)
- Structural context available
- Cited in: Mutation analysis of B3GALTL in Peters Plus syndrome. (PMID 18798333)
- Cited in: Novel variants in CDH2 are associated with a new syndrome including Peters anomaly. (PMID 31650526)