A6E (p.Ala6Glu) variant of ACAT1 (P24752)
A6E (p.Ala6Glu) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A6E (p.Ala6Glu) variant details
- p.Ala6Glu
- gnomAD 11-108121623-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.45
- CADD 12.40
- PolyPhen-2 0.09
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available