L22M (p.Leu22Met) variant of ACAT1 (P24752)
L22M (p.Leu22Met) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L22M (p.Leu22Met) variant details
- p.Leu22Met
- gnomAD 11-108121670-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.32
- CADD 18.20
- PolyPhen-2 0.10
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available