G54D (p.Gly54Asp) variant of CEBPA (P49715)
G54D (p.Gly54Asp) in CEBPA (P49715) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
G54D (p.Gly54Asp) variant details
- p.Gly54Asp
- Ensembl rs2145264041
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.08
- MetaLR 0.01
- MetaSVM -0.96
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.68
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available