E65K (p.Glu65Lys) variant of CEBPE (Q15744)
E65K (p.Glu65Lys) in CEBPE (Q15744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E65K (p.Glu65Lys) variant details
- p.Glu65Lys
- gnomAD 14-23118899-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.22
- MetaLR 0.02
- MetaSVM -1.04
- CADD 19.60
- Population evidence available
- Structural context available
- Literature evidence available