G91R (p.Gly91Arg) variant of ABCG5 (Q9H222)
G91R (p.Gly91Arg) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
G91R (p.Gly91Arg) variant details
- p.Gly91Arg
- TOPMed rs902259474
- gnomAD rs902259474
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.93
- CADD 24.60
- PolyPhen-2 0.09
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5.2e-05)
- Structural context available