L57I (p.Leu57Ile) variant of CEBPE (Q15744)
L57I (p.Leu57Ile) in CEBPE (Q15744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L57I (p.Leu57Ile) variant details
- p.Leu57Ile
- gnomAD 14-23118923-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.23
- MetaSVM -0.66
- CADD 24.90
- Most common in the 1KG:ASW population (allele frequency 0.023)
- Structural context available
- Literature evidence available