R20L (p.Arg20Leu) variant of ACAT1 (P24752)
R20L (p.Arg20Leu) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R20L (p.Arg20Leu) variant details
- p.Arg20Leu
- gnomAD 11-108121665-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.44
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available