E81D (p.Glu81Asp) variant of APOB (Apolipoprotein B-100)
E81D (p.Glu81Asp) in APOB (Apolipoprotein B-100) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
E81D (p.Glu81Asp) variant details
- p.Glu81Asp
- NCI-TCGA TCGA novel
- Ensembl rs1664121745
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.32
- MetaLR 0.24
- MetaSVM -0.59
- CADD 22.40
- PolyPhen-2 0.02
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available