Y45F (p.Tyr45Phe) variant of CEBPE (Q15744)
Y45F (p.Tyr45Phe) in CEBPE (Q15744) 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.
Y45F (p.Tyr45Phe) variant details
- p.Tyr45Phe
- gnomAD 14-23118958-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.43
- MetaLR 0.26
- MetaSVM -0.55
- CADD 27.20
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available