A37E (p.Ala37Glu) variant of CEBPA (P49715)
A37E (p.Ala37Glu) 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 0.31 / 1. The record also includes population frequency data and structural context.
A37E (p.Ala37Glu) variant details
- p.Ala37Glu
- gnomAD rs1967199569
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.06
- MetaLR 0.04
- MetaSVM -1.08
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.87
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available