R61W (p.Arg61Trp) variant of ABCG5 (Q9H222)
R61W (p.Arg61Trp) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Sitosterolemia; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
R61W (p.Arg61Trp) variant details
- p.Arg61Trp
- rs766545187
- ClinGen CA1636753
- ClinVar RCV000734914
- ClinVar RCV001343394
- Uncertain significance
- Sitosterolemia; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- CADD 7.65
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Uncertain significance (Sitosterolemia; Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)