E83G (p.Glu83Gly) variant of CDH2 (Cadherin-2)
E83G (p.Glu83Gly) in CDH2 (Cadherin-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes variant effect predictions and structural context.
E83G (p.Glu83Gly) variant details
- p.Glu83Gly
- ESP rs376492579
- ExAC rs376492579
- TOPMed rs376492579
- gnomAD rs376492579
- Uncertain significance
- Inborn genetic diseases
- Missense
- MetaLR 0.23
- MetaSVM -0.82
- SIFT 0.36
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available