A5T (p.Ala5Thr) variant of ACAT1 (P24752)
A5T (p.Ala5Thr) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A5T (p.Ala5Thr) variant details
- p.Ala5Thr
- gnomAD 11-108121619-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.14
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available