L596R (p.Leu596Arg) variant of ABCG8 (Q9H221)
L596R (p.Leu596Arg) in ABCG8 (Q9H221) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Sitosterolemia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
L596R (p.Leu596Arg) variant details
- p.Leu596Arg
- rs137852992
- ClinGen CA253368
- ClinVar RCV000005261
- UniProt VAR 012266
- Pathogenic
- Sitosterolemia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.72
- CADD 28.40
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (Sitosterolemia 1)
- EBI: Pathogenic (in STSL1)
- UniProt: Pathogenic (in STSL1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)