G79R (p.Gly79Arg) variant of ABCG5 (Q9H222)
G79R (p.Gly79Arg) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Sitosterolemia; Sitosterolemia 1; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
G79R (p.Gly79Arg) variant details
- p.Gly79Arg
- rs142125966
- ClinGen CA1636740
- ClinVar RCV000734930
- ClinVar RCV001143473
- Uncertain significance
- Sitosterolemia; Sitosterolemia 1; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Sitosterolemia; Sitosterolemia 1; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)