A2D (p.Ala2Asp) variant of ACAT1 (P24752)
A2D (p.Ala2Asp) in ACAT1 (P24752) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A2D (p.Ala2Asp) variant details
- p.Ala2Asp
- TOPMed rs915506786
- gnomAD rs915506786
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.16
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available