E8K (p.Glu8Lys) variant of ABCG8 (Q9H221)
E8K (p.Glu8Lys) 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; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
E8K (p.Glu8Lys) variant details
- p.Glu8Lys
- rs1199531123
- ClinGen CA346662440
- ClinVar RCV002446306
- ClinVar RCV005098058
- Uncertain significance
- Sitosterolemia 1; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.08
- CADD 4.68
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (Sitosterolemia 1; Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 5.6e-05)
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)