E28K (p.Glu28Lys) variant of APOB (Apolipoprotein B-100)
E28K (p.Glu28Lys) in APOB (Apolipoprotein B-100) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
E28K (p.Glu28Lys) variant details
- p.Glu28Lys
- cosmic curated COSV51947
- TOPMed rs1264357217
- gnomAD rs1264357217
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.01
- MetaLR 0.01
- MetaSVM -0.95
- CADD 22.10
- PolyPhen-2 0.24
- SIFT 0.06
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available