Y7H (p.Tyr7His) variant of CEBPE (Q15744)
Y7H (p.Tyr7His) in CEBPE (Q15744) is a missense change. 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.
Y7H (p.Tyr7His) variant details
- p.Tyr7His
- ExAC rs768805943
- gnomAD rs768805943
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.69
- MetaLR 0.11
- MetaSVM -0.82
- CADD 23.90
- Most common in the Non-Finnish European population (allele frequency 0.00063)
- Structural context available