E30* (p.Glu30Ter) variant of ACAT1 (P24752)
E30* (p.Glu30Ter) in ACAT1 (P24752) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
E30* (p.Glu30Ter) variant details
- p.Glu30Ter
- gnomAD 11-108131922-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.549
- CADD 35.00
- Population evidence available
- Structural context available
- Literature evidence available