E25E (p.Glu25Glu) variant of ACAT1 (P24752)
E25E (p.Glu25Glu) in ACAT1 (P24752) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E25E (p.Glu25Glu) variant details
- p.Glu25Glu
- gnomAD 11-108131909-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.355
- CADD 15.00
- Population evidence available
- Structural context available
- Literature evidence available