A29T (p.Ala29Thr) variant of CEBPA (P49715)
A29T (p.Ala29Thr) 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 0.29 / 1. The record also includes population frequency data and structural context.
A29T (p.Ala29Thr) variant details
- p.Ala29Thr
- Ensembl rs2145264604
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.08
- MetaLR 0.05
- MetaSVM -1.04
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.32
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available