E28Q (p.Glu28Gln) variant of ABCA1 (O95477)
E28Q (p.Glu28Gln) in ABCA1 (O95477) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypercholesterolemia, familial, 1; 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.
E28Q (p.Glu28Gln) variant details
- p.Glu28Gln
- rs755348141
- ClinGen CA5169496
- ClinVar RCV001904615
- ClinVar RCV006634945
- Uncertain significance
- Hypercholesterolemia, familial, 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.38
- CADD 27.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Hypercholesterolemia, familial, 1; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)
- Cited in: Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance… (PMID 21600525)