G574R (p.Gly574Arg) variant of ABCG8 (Q9H221)
G574R (p.Gly574Arg) in ABCG8 (Q9H221) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Sitosterolemia 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
G574R (p.Gly574Arg) variant details
- p.Gly574Arg
- rs137852988
- ClinGen CA253361
- cosmic curated COSV10723
- ClinVar RCV000005256
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Sitosterolemia 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.49
- CADD 27.60
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Sitosterolemia 1; not provided)
- EBI: Pathogenic (in STSL1)
- UniProt: Pathogenic (in STSL1)
- Most common in the Amish population (allele frequency 0.027)
- Structural context available
- Cited in: Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. (PMID 11099417)
- Cited in: Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving… (PMID 11452359)