A2G (p.Ala2Gly) variant of ACAT1 (P24752)
A2G (p.Ala2Gly) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A2G (p.Ala2Gly) variant details
- p.Ala2Gly
- gnomAD 11-108121611-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.12
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available