E75K (p.Glu75Lys) variant of CDH2 (Cadherin-2)
E75K (p.Glu75Lys) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
E75K (p.Glu75Lys) variant details
- p.Glu75Lys
- cosmic curated COSV10499
- TOPMed rs1431697220
- gnomAD rs1431697220
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.15
- MetaLR 0.10
- MetaSVM -0.98
- CADD 22.80
- PolyPhen-2 0.10
- SIFT 0.20
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available