L7F (p.Leu7Phe) variant of ACAT1 (P24752)
L7F (p.Leu7Phe) 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.
L7F (p.Leu7Phe) variant details
- p.Leu7Phe
- gnomAD 11-108121625-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.25
- AlphaMissense 0.08
- MetaLR 0.13
- MetaSVM -0.96
- CADD 19.20
- PolyPhen-2 0.01
- Population evidence available
- Structural context available
- Literature evidence available