R27G (p.Arg27Gly) variant of ACAT1 (P24752)
R27G (p.Arg27Gly) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R27G (p.Arg27Gly) variant details
- p.Arg27Gly
- gnomAD 11-108131913-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.51
- CADD 17.40
- PolyPhen-2 0.04
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available