G92R (p.Gly92Arg) variant of ABCA1 (O95477)
G92R (p.Gly92Arg) in ABCA1 (O95477) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
G92R (p.Gly92Arg) variant details
- p.Gly92Arg
- rs1212597294
- TOPMed rs1212597294
- gnomAD rs1212597294
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.91
- MetaLR 1.00
- MetaSVM 0.93
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available