D627G (p.Asp627Gly) variant of CDH2 (Cadherin-2)
D627G (p.Asp627Gly) in CDH2 (Cadherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Syndromic neurodevelopmental disorder; Axon pathfinding, cardiac, ocular and gen. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
D627G (p.Asp627Gly) variant details
- p.Asp627Gly
- rs1599010918
- ClinGen CA402107366
- ClinVar RCV001007457
- ClinVar RCV001261828
- Pathogenic/Likely pathogenic
- Syndromic neurodevelopmental disorder; Axon pathfinding, cardiac, ocular and gen
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- AlphaMissense 0.99
- MetaLR 0.75
- MetaSVM 0.76
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic/Likely pathogenic (Syndromic neurodevelopmental disorder; Axon pathfinding, cardiac)
- 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)