A28S (p.Ala28Ser) variant of ABCG5 (Q9H222)
A28S (p.Ala28Ser) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Sitosterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
A28S (p.Ala28Ser) variant details
- p.Ala28Ser
- rs980495592
- ClinGen CA346661892
- ClinVar RCV002011244
- TOPMed rs980495592
- Uncertain significance
- Sitosterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- CADD 7.63
- PolyPhen-2 0.02
- SIFT 0.73
- ClinVar: Uncertain significance (Sitosterolemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)