L19P (p.Leu19Pro) variant of ACAT1 (P24752)
L19P (p.Leu19Pro) 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.
L19P (p.Leu19Pro) variant details
- p.Leu19Pro
- gnomAD 11-108121662-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.58
- CADD 20.40
- PolyPhen-2 0.13
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available