R419H (p.Arg419His) variant of ABCG5 (Q9H222)
R419H (p.Arg419His) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Sitosterolemia 2; Sitosterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R419H (p.Arg419His) variant details
- p.Arg419His
- rs119479067
- ClinGen CA253374
- ClinVar RCV000005266
- ClinVar RCV006461101
- Pathogenic
- Sitosterolemia 2; Sitosterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.65
- CADD 24.30
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic (Sitosterolemia 2; Sitosterolemia)
- EBI: Pathogenic (in STSL2)
- UniProt: Pathogenic (in STSL2)
- Most common in the East Asian population (allele frequency 0.00035)
- 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)