E24Q (p.Glu24Gln) variant of CDH2 (Cadherin-2)
E24Q (p.Glu24Gln) in CDH2 (Cadherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
E24Q (p.Glu24Gln) variant details
- p.Glu24Gln
- rs146386375
- ClinGen CA8923840
- ClinVar RCV001985159
- ClinVar RCV003170102
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.08
- MetaLR 0.07
- MetaSVM -1.08
- CADD 16.90
- PolyPhen-2 0.02
- SIFT 0.22
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)