A6T (p.Ala6Thr) variant of ACAT1 (P24752)
A6T (p.Ala6Thr) 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.
A6T (p.Ala6Thr) variant details
- p.Ala6Thr
- gnomAD 11-108121622-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.21
- CADD 14.90
- PolyPhen-2 0.03
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available