E32Q (p.Glu32Gln) variant of CEBPB (P17676)
E32Q (p.Glu32Gln) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data.
E32Q (p.Glu32Gln) variant details
- p.Glu32Gln
- TOPMed rs1301797980
- gnomAD rs1301797980
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.15
- CADD 26.00
- PolyPhen-2 0.90
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)