A12D (p.Ala12Asp) variant of ACAT1 (P24752)
A12D (p.Ala12Asp) 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.
A12D (p.Ala12Asp) variant details
- p.Ala12Asp
- gnomAD 11-108121641-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.22
- CADD 10.70
- PolyPhen-2 0.00
- SIFT 0.39
- Population evidence available
- Structural context available
- Literature evidence available