P85A (p.Pro85Ala) variant of CEBPE (Q15744)
P85A (p.Pro85Ala) in CEBPE (Q15744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
P85A (p.Pro85Ala) variant details
- p.Pro85Ala
- gnomAD 14-23118839-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.05
- MetaSVM -1.06
- CADD 15.80
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available