A2T (p.Ala2Thr) variant of ABCA1 (O95477)
A2T (p.Ala2Thr) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- TOPMed rs1212858633
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.42
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.12
- Population evidence available
- Structural context available