V3E (p.Val3Glu) variant of ACAT1 (P24752)
V3E (p.Val3Glu) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
V3E (p.Val3Glu) variant details
- p.Val3Glu
- gnomAD 11-108121614-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.39
- CADD 18.50
- PolyPhen-2 0.05
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available