A33E (p.Ala33Glu) variant of CEBPB (P17676)
A33E (p.Ala33Glu) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and published literature.
A33E (p.Ala33Glu) variant details
- p.Ala33Glu
- gnomAD 20-50191131-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.05
- CADD 22.70
- PolyPhen-2 0.30
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 0.00012)
- Literature evidence available