A5E (p.Ala5Glu) variant of ACAT1 (P24752)
A5E (p.Ala5Glu) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A5E (p.Ala5Glu) variant details
- p.Ala5Glu
- gnomAD 11-108121620-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.15
- CADD 20.20
- PolyPhen-2 0.05
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available