S10C (p.Ser10Cys) variant of ACAT1 (P24752)
S10C (p.Ser10Cys) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S10C (p.Ser10Cys) variant details
- p.Ser10Cys
- gnomAD 11-108121634-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.25
- CADD 15.70
- PolyPhen-2 0.04
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available