S16G (p.Ser16Gly) variant of ACAT1 (P24752)
S16G (p.Ser16Gly) 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.
S16G (p.Ser16Gly) variant details
- p.Ser16Gly
- gnomAD 11-108121652-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.21
- CADD 9.96
- PolyPhen-2 0.00
- SIFT 0.35
- Population evidence available
- Structural context available
- Literature evidence available