E139Q (p.Glu139Gln) variant of CDH2 (Cadherin-2)
E139Q (p.Glu139Gln) in CDH2 (Cadherin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
E139Q (p.Glu139Gln) variant details
- p.Glu139Gln
- TOPMed rs1393676210
- gnomAD rs1393676210
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.07
- MetaLR 0.12
- MetaSVM -0.86
- CADD 20.30
- PolyPhen-2 0.01
- SIFT 0.60
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available