S32C (p.Ser32Cys) variant of ACAT1 (P24752)
S32C (p.Ser32Cys) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S32C (p.Ser32Cys) variant details
- p.Ser32Cys
- gnomAD 11-108131928-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.52
- CADD 20.30
- PolyPhen-2 0.25
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available