E204D (p.Glu204Asp) variant of RAD21 (O60216)
E204D (p.Glu204Asp) in RAD21 (O60216) 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 0.21 / 1. The record also includes population frequency data.
E204D (p.Glu204Asp) variant details
- p.Glu204Asp
- TOPMed rs1230958195
- gnomAD rs1230958195
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.19
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.57
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)