L7I (p.Leu7Ile) variant of ACAT1 (P24752)
L7I (p.Leu7Ile) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L7I (p.Leu7Ile) variant details
- p.Leu7Ile
- gnomAD 11-108121625-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.22
- CADD 17.50
- PolyPhen-2 0.08
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available