K100R (p.Lys100Arg) variant of APOB (Apolipoprotein B-100)
K100R (p.Lys100Arg) in APOB (Apolipoprotein B-100) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
K100R (p.Lys100Arg) variant details
- p.Lys100Arg
- ExAC rs775252308
- gnomAD rs775252308
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.02
- MetaLR 0.05
- MetaSVM -1.02
- CADD 16.60
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available