P33R (p.Pro33Arg) variant of ABCG5 (Q9H222)
P33R (p.Pro33Arg) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Sitosterolemia 2; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
P33R (p.Pro33Arg) variant details
- p.Pro33Arg
- rs778605187
- ClinGen CA1636802
- ClinVar RCV000281113
- ClinVar RCV002379142
- Uncertain significance
- Sitosterolemia 2; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- CADD 2.73
- PolyPhen-2 0.01
- SIFT 0.47
- ClinVar: Uncertain significance (Sitosterolemia 2; Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)