A20S (p.Ala20Ser) variant of CEBPB (P17676)
A20S (p.Ala20Ser) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A20S (p.Ala20Ser) variant details
- p.Ala20Ser
- TOPMed rs1000008468
- gnomAD rs1000008468
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.06
- CADD 23.70
- PolyPhen-2 0.26
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available