p.Pro18 Pro19del variant of CEBPB (P17676)
p.Pro18 Pro19del in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
p.Pro18 Pro19del variant details
- rs760594355
- gnomAD 20-50191074-TGCCG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.441
- CADD 19.50
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available