E212D (p.Glu212Asp) variant of RAD21 (O60216)
E212D (p.Glu212Asp) in RAD21 (O60216) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data.
E212D (p.Glu212Asp) variant details
- p.Glu212Asp
- TOPMed rs1812490472
- gnomAD rs1812490472
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.12
- CADD 15.30
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)