L19I (p.Leu19Ile) variant of ACAT1 (P24752)
L19I (p.Leu19Ile) 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.
L19I (p.Leu19Ile) variant details
- p.Leu19Ile
- gnomAD 11-108121661-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.27
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available