Y30C (p.Tyr30Cys) variant of CEBPB (P17676)
Y30C (p.Tyr30Cys) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
Y30C (p.Tyr30Cys) variant details
- p.Tyr30Cys
- gnomAD 20-50191122-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.42
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available