V23M (p.Val23Met) variant of ACAT1 (P24752)
V23M (p.Val23Met) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
V23M (p.Val23Met) variant details
- p.Val23Met
- gnomAD 11-108121673-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.19
- AlphaMissense 0.27
- MetaLR 0.15
- MetaSVM -0.79
- CADD 6.97
- PolyPhen-2 0.10
- Population evidence available
- Structural context available
- Literature evidence available