p.Pro19dup variant of CEBPB (P17676)
p.Pro19dup in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
p.Pro19dup variant details
- rs760594355
- gnomAD 20-50191074-T-TGC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.433
- CADD 18.50
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available