V5A (p.Val5Ala) variant of CEBPB (P17676)
V5A (p.Val5Ala) 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.
V5A (p.Val5Ala) variant details
- p.Val5Ala
- gnomAD 20-50191047-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.04
- CADD 22.30
- PolyPhen-2 0.07
- SIFT 0.32
- Population evidence available
- Structural context available
- Literature evidence available