Y30N (p.Tyr30Asn) variant of CEBPB (P17676)
Y30N (p.Tyr30Asn) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
Y30N (p.Tyr30Asn) variant details
- p.Tyr30Asn
- gnomAD 20-50191121-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.37
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available