G53C (p.Gly53Cys) variant of CEBPA (P49715)
G53C (p.Gly53Cys) in CEBPA (P49715) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
G53C (p.Gly53Cys) variant details
- p.Gly53Cys
- Ensembl rs1967196253
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.20
- AlphaMissense 0.17
- MetaLR 0.10
- MetaSVM -1.09
- CADD 27.40
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available