N601T (p.Asn601Thr) variant of CDH2 (Cadherin-2)
N601T (p.Asn601Thr) in CDH2 (Cadherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Axon pathfinding, cardiac, ocular and genital defects; Corpus callosum, agenesis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
N601T (p.Asn601Thr) variant details
- p.Asn601Thr
- rs201775968
- ClinGen CA402107536
- ClinVar RCV001007455
- UniProt VAR 084445
- Pathogenic
- Axon pathfinding, cardiac, ocular and genital defects; Corpus callosum, agenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- AlphaMissense 0.83
- MetaLR 0.56
- MetaSVM 0.37
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Pathogenic (Axon pathfinding, cardiac, ocular and genital defects; Corpus ca)
- EBI: Pathogenic (in ACOGS)
- UniProt: Pathogenic (in ACOGS)
- Population evidence available
- 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)