E26D (p.Glu26Asp) variant of ABCG5 (Q9H222)
E26D (p.Glu26Asp) 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; Sitosterolemia; Sitosterolemia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E26D (p.Glu26Asp) variant details
- p.Glu26Asp
- rs144622073
- ClinGen CA1636807
- ClinVar RCV001136898
- ClinVar RCV002418591
- Uncertain significance
- Sitosterolemia 2; Sitosterolemia; Sitosterolemia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 17.30
- PolyPhen-2 0.04
- SIFT 0.05
- ClinVar: Uncertain significance (Sitosterolemia 2; Sitosterolemia; Sitosterolemia 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00026)
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)