R389H (p.Arg389His) variant of ABCG5 (Q9H222)
R389H (p.Arg389His) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Sitosterolemia 2; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R389H (p.Arg389His) variant details
- p.Arg389His
- rs119480069
- ClinGen CA253376
- ClinVar RCV000005268
- ClinVar RCV001232197
- Pathogenic/Likely pathogenic
- Sitosterolemia 2; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.65
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Sitosterolemia 2; Cardiovascular phenotype; not provided)
- EBI: Pathogenic (in STSL2)
- UniProt: Pathogenic (in STSL2)
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available
- Cited in: Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. (PMID 11138003)
- Cited in: Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving… (PMID 11452359)