E8G (p.Glu8Gly) variant of CEBPA (P49715)
E8G (p.Glu8Gly) in CEBPA (P49715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E8G (p.Glu8Gly) variant details
- p.Glu8Gly
- Ensembl rs2145265073
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.19
- MetaLR 0.13
- MetaSVM -0.90
- CADD 31.00
- PolyPhen-2 0.59
- SIFT 0.00
- Population evidence available
- Structural context available