A109T (p.Ala109Thr) variant of ABCA1 (O95477)
A109T (p.Ala109Thr) in ABCA1 (O95477) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes structural context.
A109T (p.Ala109Thr) variant details
- p.Ala109Thr
- rs1387348591
- ClinGen CA374316087
- ClinVar RCV002716036
- TOPMed rs1387348591
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- AlphaMissense 0.09
- MetaLR 0.26
- MetaSVM -0.78
- PolyPhen-2 0.25
- SIFT 0.33
- EVE 0.31
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available