P18S (p.Pro18Ser) variant of CEBPB (P17676)
P18S (p.Pro18Ser) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
P18S (p.Pro18Ser) variant details
- p.Pro18Ser
- TOPMed rs1260313083
- gnomAD rs1260313083
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.03
- CADD 23.20
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available