L7H (p.Leu7His) variant of ACAT1 (P24752)
L7H (p.Leu7His) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
L7H (p.Leu7His) variant details
- p.Leu7His
- gnomAD 11-108121626-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.38
- CADD 22.20
- PolyPhen-2 0.42
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available