A98S (p.Ala98Ser) variant of ABCG5 (Q9H222)
A98S (p.Ala98Ser) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Sitosterolemia 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
A98S (p.Ala98Ser) variant details
- p.Ala98Ser
- ExAC rs781194036
- gnomAD rs781194036
- Uncertain significance
- Sitosterolemia 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.72
- CADD 25.40
- PolyPhen-2 0.81
- SIFT 0.02
- ClinVar: Uncertain significance (Sitosterolemia 2)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0012)
- Structural context available