R26G (p.Arg26Gly) variant of ABCG8 (Q9H221)
R26G (p.Arg26Gly) in ABCG8 (Q9H221) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Sitosterolemia 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R26G (p.Arg26Gly) variant details
- p.Arg26Gly
- rs138925418
- ClinGen CA1636883
- ClinVar RCV000594891
- ClinVar RCV001143575
- Uncertain significance
- Sitosterolemia 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.18
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (Sitosterolemia 1; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0023)
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)