R126G (p.Arg126Gly) variant of ABCA1 (O95477)
R126G (p.Arg126Gly) in ABCA1 (O95477) 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 0.34 / 1. The record also includes population frequency data and structural context.
R126G (p.Arg126Gly) variant details
- p.Arg126Gly
- TOPMed rs1286945641
- gnomAD rs1286945641
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.28
- MetaLR 0.75
- MetaSVM -0.04
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available