A20T (p.Ala20Thr) variant of CEBPB (P17676)
A20T (p.Ala20Thr) 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, published literature, and structural context.
A20T (p.Ala20Thr) variant details
- p.Ala20Thr
- gnomAD 20-50191091-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.06
- CADD 26.40
- PolyPhen-2 0.61
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available