L19R (p.Leu19Arg) variant of ACAT1 (P24752)
L19R (p.Leu19Arg) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L19R (p.Leu19Arg) variant details
- p.Leu19Arg
- gnomAD 11-108121662-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.47
- AlphaMissense 0.08
- MetaLR 0.14
- MetaSVM -0.94
- CADD 18.50
- PolyPhen-2 0.00
- Population evidence available
- Structural context available
- Literature evidence available