A4T (p.Ala4Thr) variant of CEBPA (P49715)
A4T (p.Ala4Thr) 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 0.26 / 1. The record also includes population frequency data and structural context.
A4T (p.Ala4Thr) variant details
- p.Ala4Thr
- TOPMed rs1415169403
- gnomAD rs1415169403
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.04
- MetaLR 0.04
- MetaSVM -1.06
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.15
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available