E108K (p.Glu108Lys) variant of APOB (Apolipoprotein B-100)
E108K (p.Glu108Lys) in APOB (Apolipoprotein B-100) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
E108K (p.Glu108Lys) variant details
- p.Glu108Lys
- cosmic curated COSV51942
- gnomAD rs970063693
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.03
- MetaLR 0.09
- MetaSVM -1.01
- CADD 22.40
- PolyPhen-2 0.39
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available