A2P (p.Ala2Pro) variant of ACAT1 (P24752)
A2P (p.Ala2Pro) 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.
A2P (p.Ala2Pro) variant details
- p.Ala2Pro
- gnomAD 11-108121610-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.14
- CADD 20.10
- PolyPhen-2 0.00
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available