A59S (p.Ala59Ser) variant of CEBPE (Q15744)
A59S (p.Ala59Ser) 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.
A59S (p.Ala59Ser) variant details
- p.Ala59Ser
- gnomAD 14-23118917-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.03
- MetaSVM -1.03
- CADD 17.50
- Population evidence available
- Structural context available
- Literature evidence available