E25V (p.Glu25Val) variant of ACAT1 (P24752)
E25V (p.Glu25Val) 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.
E25V (p.Glu25Val) variant details
- p.Glu25Val
- gnomAD 11-108131908-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.49
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available