L4Q (p.Leu4Gln) variant of CEBPB (P17676)
L4Q (p.Leu4Gln) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L4Q (p.Leu4Gln) variant details
- p.Leu4Gln
- gnomAD 20-50191044-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.23
- CADD 26.50
- PolyPhen-2 0.80
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available