A6P (p.Ala6Pro) variant of CEBPB (P17676)
A6P (p.Ala6Pro) in CEBPB (P17676) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A6P (p.Ala6Pro) variant details
- p.Ala6Pro
- gnomAD 20-50191047-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.465
- CADD 27.00
- Population evidence available
- Structural context available
- Literature evidence available