Q80K (p.Gln80Lys) variant of ABCG5 (Q9H222)
Q80K (p.Gln80Lys) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
Q80K (p.Gln80Lys) variant details
- p.Gln80Lys
- rs373819340
- ClinGen CA1636739
- ClinVar RCV001873908
- ClinVar RCV002261396
- Uncertain significance
- Sitosterolemia 2; Sitosterolemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- CADD 22.90
- PolyPhen-2 0.27
- SIFT 0.01
- ClinVar: Uncertain significance (Sitosterolemia 2; Sitosterolemia; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)