E25* (p.Glu25Ter) variant of ACAT1 (P24752)
E25* (p.Glu25Ter) in ACAT1 (P24752) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
E25* (p.Glu25Ter) variant details
- p.Glu25Ter
- gnomAD 11-108131907-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.762
- CADD 41.00
- Population evidence available
- Structural context available
- Literature evidence available