A98G (p.Ala98Gly) variant of ABCG5 (Q9H222)
A98G (p.Ala98Gly) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Sitosterolemia 1; Hyperuricemic nephropathy, familial. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
A98G (p.Ala98Gly) variant details
- p.Ala98Gly
- rs145164937
- ClinGen CA1636713
- ClinVar RCV000376941
- ClinVar RCV000766455
- Conflicting interpretations
- Cardiovascular phenotype; Sitosterolemia 1; Hyperuricemic nephropathy, familial
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.87
- CADD 29.80
- PolyPhen-2 0.82
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Sitosterolemia 1; Hyperuricemic nephro)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:DRUZE population (allele frequency 0.057)
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)