A48P (p.Ala48Pro) variant of CEBPA (P49715)
A48P (p.Ala48Pro) 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 0.37 / 1. The record also includes population frequency data and structural context.
A48P (p.Ala48Pro) variant details
- p.Ala48Pro
- TOPMed rs892805896
- gnomAD rs892805896
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.14
- MetaLR 0.13
- MetaSVM -0.90
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.31
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available