E72K (p.Glu72Lys) variant of CDH2 (Cadherin-2)
E72K (p.Glu72Lys) in CDH2 (Cadherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
E72K (p.Glu72Lys) variant details
- p.Glu72Lys
- rs1290280143
- ClinGen CA402244686
- ClinVar RCV002726614
- TOPMed rs1290280143
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.16
- MetaLR 0.16
- MetaSVM -0.94
- CADD 22.30
- PolyPhen-2 0.24
- SIFT 0.17
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available