E81K (p.Glu81Lys) variant of APOB (Apolipoprotein B-100)
E81K (p.Glu81Lys) in APOB (Apolipoprotein B-100) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
E81K (p.Glu81Lys) variant details
- p.Glu81Lys
- TOPMed rs1223090099
- gnomAD rs1223090099
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.32
- MetaLR 0.29
- MetaSVM -0.42
- CADD 26.10
- PolyPhen-2 0.54
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available