P17T (p.Pro17Thr) variant of CEBPB (P17676)
P17T (p.Pro17Thr) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
P17T (p.Pro17Thr) variant details
- p.Pro17Thr
- gnomAD 20-50191082-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.11
- CADD 24.60
- PolyPhen-2 0.83
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available