H79T (p.His79Thr) variant of CEBPE (Q15744)
H79T (p.His79Thr) in CEBPE (Q15744) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
H79T (p.His79Thr) variant details
- p.His79Thr
- gnomAD 14-23118856-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.573
- CADD 30.00
- Most common in the HGDP:MANDENKA population (allele frequency 0.025)
- Structural context available
- Literature evidence available