A27S (p.Ala27Ser) variant of CEBPB (P17676)
A27S (p.Ala27Ser) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and published literature.
A27S (p.Ala27Ser) variant details
- p.Ala27Ser
- gnomAD 20-50191112-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.16
- CADD 25.90
- PolyPhen-2 0.70
- SIFT 0.01
- Population evidence available
- Literature evidence available