A2T (p.Ala2Thr) variant of ACAT1 (P24752)
A2T (p.Ala2Thr) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD 11-108121610-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.13
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available