A76T (p.Ala76Thr) variant of CEBPE (Q15744)
A76T (p.Ala76Thr) in CEBPE (Q15744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A76T (p.Ala76Thr) variant details
- p.Ala76Thr
- ExAC rs768470486
- TOPMed rs768470486
- gnomAD rs768470486
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.03
- MetaSVM -1.01
- CADD 15.20
- Most common in the 1KG:MSL population (allele frequency 0.081)
- Structural context available