G89A (p.Gly89Ala) variant of ABCG5 (Q9H222)
G89A (p.Gly89Ala) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
G89A (p.Gly89Ala) variant details
- p.Gly89Ala
- rs886056031
- ClinGen CA10613855
- ClinVar RCV000307666
- gnomAD rs886056031
- Uncertain significance
- Sitosterolemia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.85
- CADD 27.20
- PolyPhen-2 0.28
- SIFT 0.03
- ClinVar: Uncertain significance (Sitosterolemia 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.4e-06)
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)