Q70E (p.Gln70Glu) variant of CDH2 (Cadherin-2)
Q70E (p.Gln70Glu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Q70E (p.Gln70Glu) variant details
- p.Gln70Glu
- rs1372835307
- ClinGen CA402244724
- ClinVar RCV002424015
- ClinVar RCV005097935
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.08
- MetaLR 0.10
- MetaSVM -0.94
- CADD 19.70
- PolyPhen-2 0.04
- SIFT 0.68
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)