G91E (p.Gly91Glu) variant of ABCG5 (Q9H222)
G91E (p.Gly91Glu) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Sitosterolemia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G91E (p.Gly91Glu) variant details
- p.Gly91Glu
- rs749587717
- ClinGen CA1636718
- ClinVar RCV002245434
- ExAC rs749587717
- Uncertain significance
- Sitosterolemia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- REVEL 0.97
- CADD 26.90
- PolyPhen-2 0.73
- SIFT 0.00
- ClinVar: Uncertain significance (Sitosterolemia 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)