E25G (p.Glu25Gly) variant of ACAT1 (P24752)
E25G (p.Glu25Gly) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
E25G (p.Glu25Gly) variant details
- p.Glu25Gly
- gnomAD 11-108131908-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.50
- CADD 20.90
- PolyPhen-2 0.02
- SIFT 0.31
- Population evidence available
- Structural context available
- Literature evidence available