S16C (p.Ser16Cys) variant of ACAT1 (P24752)
S16C (p.Ser16Cys) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S16C (p.Ser16Cys) variant details
- p.Ser16Cys
- gnomAD 11-108121652-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.30
- CADD 9.60
- PolyPhen-2 0.00
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available