Y30H (p.Tyr30His) variant of CEBPB (P17676)
Y30H (p.Tyr30His) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
Y30H (p.Tyr30His) variant details
- p.Tyr30His
- TOPMed rs1411297267
- gnomAD rs1411297267
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.34
- CADD 28.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available