R27K (p.Arg27Lys) variant of ACAT1 (P24752)
R27K (p.Arg27Lys) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
R27K (p.Arg27Lys) variant details
- p.Arg27Lys
- gnomAD 11-108131914-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.16
- CADD 7.80
- PolyPhen-2 0.00
- SIFT 0.48
- Population evidence available
- Structural context available
- Literature evidence available