K92E (p.Lys92Glu) variant of ABCG5 (Q9H222)
K92E (p.Lys92Glu) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Sitosterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
K92E (p.Lys92Glu) variant details
- p.Lys92Glu
- rs2466095732
- ClinGen CA346668321
- ClinVar RCV003055204
- Uncertain significance
- Sitosterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.86
- CADD 29.80
- PolyPhen-2 0.49
- SIFT 0.00
- ClinVar: Uncertain significance (Sitosterolemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)