P19L (p.Pro19Leu) variant of CEBPB (P17676)
P19L (p.Pro19Leu) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
P19L (p.Pro19Leu) variant details
- p.Pro19Leu
- gnomAD rs1206905908
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.09
- CADD 25.50
- PolyPhen-2 0.77
- SIFT 0.03
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available