D84E (p.Asp84Glu) variant of CDH2 (Cadherin-2)
D84E (p.Asp84Glu) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
D84E (p.Asp84Glu) variant details
- p.Asp84Glu
- rs2144038346
- ClinGen CA402244462
- ClinVar RCV001979437
- ClinVar RCV004044570
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.46
- MetaLR 0.31
- MetaSVM -0.47
- CADD 13.30
- PolyPhen-2 0.83
- SIFT 0.09
- 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 2.7e-06)
- 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)