P18L (p.Pro18Leu) variant of CEBPB (P17676)
P18L (p.Pro18Leu) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
P18L (p.Pro18Leu) variant details
- p.Pro18Leu
- TOPMed rs1041584212
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.07
- CADD 23.50
- PolyPhen-2 0.30
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available