R20W (p.Arg20Trp) variant of ACAT1 (P24752)
R20W (p.Arg20Trp) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R20W (p.Arg20Trp) variant details
- p.Arg20Trp
- gnomAD 11-108121664-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.47
- AlphaMissense 0.18
- MetaLR 0.17
- MetaSVM -0.64
- CADD 22.80
- PolyPhen-2 0.75
- Population evidence available
- Structural context available
- Literature evidence available