G89S (p.Gly89Ser) variant of ABCG5 (Q9H222)
G89S (p.Gly89Ser) in ABCG5 (Q9H222) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
G89S (p.Gly89Ser) variant details
- p.Gly89Ser
- TOPMed rs1453206674
- gnomAD rs1453206674
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.81
- CADD 34.00
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available