I46N (p.Ile46Asn) variant of CEBPE (Q15744)
I46N (p.Ile46Asn) in CEBPE (Q15744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
I46N (p.Ile46Asn) variant details
- p.Ile46Asn
- ExAC rs760954076
- TOPMed rs760954076
- gnomAD rs760954076
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.49
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.27
- MetaSVM -0.52
- CADD 29.20
- Most common in the Non-Finnish European population (allele frequency 0.00049)
- Structural context available