E139K (p.Glu139Lys) variant of CDH2 (Cadherin-2)
E139K (p.Glu139Lys) 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.
E139K (p.Glu139Lys) variant details
- p.Glu139Lys
- rs1393676210
- ClinGen CA402244037
- ClinVar RCV002255041
- ClinVar RCV003308081
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.13
- MetaLR 0.13
- MetaSVM -0.93
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.79
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-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)