R419P (p.Arg419Pro) variant of ABCG5 (Q9H222)
R419P (p.Arg419Pro) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Sitosterolemia 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R419P (p.Arg419Pro) variant details
- p.Arg419Pro
- rs119479067
- ClinGen CA253375
- ClinVar RCV000005267
- UniProt VAR 012247
- Pathogenic
- Sitosterolemia 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.70
- CADD 24.30
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (Sitosterolemia 2)
- EBI: Pathogenic (in STSL2)
- UniProt: Pathogenic (in STSL2)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)