S16I (p.Ser16Ile) variant of ACAT1 (P24752)
S16I (p.Ser16Ile) 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.
S16I (p.Ser16Ile) variant details
- p.Ser16Ile
- gnomAD 11-108121653-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.19
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available