D39G (p.Asp39Gly) variant of CDH2 (Cadherin-2)
D39G (p.Asp39Gly) in CDH2 (Cadherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
D39G (p.Asp39Gly) variant details
- p.Asp39Gly
- ExAC rs769118218
- TOPMed rs769118218
- gnomAD rs769118218
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.21
- MetaLR 0.20
- MetaSVM -0.76
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available