A66G (p.Ala66Gly) variant of CEBPE (Q15744)
A66G (p.Ala66Gly) in CEBPE (Q15744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A66G (p.Ala66Gly) variant details
- p.Ala66Gly
- gnomAD 14-23118895-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.06
- MetaSVM -1.05
- CADD 18.50
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available