A63E (p.Ala63Glu) variant of CEBPE (Q15744)
A63E (p.Ala63Glu) in CEBPE (Q15744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A63E (p.Ala63Glu) variant details
- p.Ala63Glu
- gnomAD 14-23118904-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.03
- MetaSVM -0.97
- CADD 13.10
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available
- Literature evidence available