P18T (p.Pro18Thr) variant of CEBPB (P17676)
P18T (p.Pro18Thr) 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.
P18T (p.Pro18Thr) variant details
- p.Pro18Thr
- gnomAD 20-50191085-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.04
- CADD 23.10
- PolyPhen-2 0.13
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available