D36E (p.Asp36Glu) variant of EED (Polycomb protein EED)
D36E (p.Asp36Glu) in EED (Polycomb protein EED) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of 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.
D36E (p.Asp36Glu) variant details
- p.Asp36Glu
- TOPMed rs1226072986
- gnomAD rs1226072986
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.36
- CADD 22.40
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available