L19F (p.Leu19Phe) variant of ACAT1 (P24752)
L19F (p.Leu19Phe) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
L19F (p.Leu19Phe) variant details
- p.Leu19Phe
- gnomAD 11-108121661-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.21
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available