F29I (p.Phe29Ile) variant of CEBPB (P17676)
F29I (p.Phe29Ile) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
F29I (p.Phe29Ile) variant details
- p.Phe29Ile
- gnomAD 20-50191118-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.14
- CADD 22.90
- PolyPhen-2 0.28
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available