D39E (p.Asp39Glu) variant of CDH2 (Cadherin-2)
D39E (p.Asp39Glu) in CDH2 (Cadherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
D39E (p.Asp39Glu) variant details
- p.Asp39Glu
- rs879180473
- ClinGen CA402244579
- ClinVar RCV002653719
- TOPMed rs879180473
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.24
- MetaLR 0.11
- MetaSVM -1.00
- CADD 21.40
- SIFT 0.42
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available