I46M (p.Ile46Met) variant of CEBPE (Q15744)
I46M (p.Ile46Met) in CEBPE (Q15744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
I46M (p.Ile46Met) variant details
- p.Ile46Met
- gnomAD 14-23118954-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.61
- MetaLR 0.23
- MetaSVM -0.73
- CADD 23.40
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Literature evidence available