E134V (p.Glu134Val) variant of CDH2 (Cadherin-2)
E134V (p.Glu134Val) 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
E134V (p.Glu134Val) variant details
- p.Glu134Val
- rs202032913
- ClinGen CA8923689
- ClinVar RCV002027302
- ClinVar RCV002352755
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.21
- MetaLR 0.15
- MetaSVM -0.89
- CADD 15.10
- PolyPhen-2 0.05
- SIFT 0.21
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.001)
- 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)