A9T (p.Ala9Thr) variant of CEBPA (P49715)
A9T (p.Ala9Thr) in CEBPA (P49715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A9T (p.Ala9Thr) variant details
- p.Ala9Thr
- gnomAD rs1181498734
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.11
- MetaLR 0.04
- MetaSVM -1.08
- CADD 23.20
- PolyPhen-2 0.04
- SIFT 0.05
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.5e-05)
- Structural context available