E30K (p.Glu30Lys) variant of APOB (Apolipoprotein B-100)
E30K (p.Glu30Lys) in APOB (Apolipoprotein B-100) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
E30K (p.Glu30Lys) variant details
- p.Glu30Lys
- ExAC rs747305859
- gnomAD rs747305859
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.06
- MetaLR 0.01
- MetaSVM -0.98
- CADD 17.80
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available