L113P (p.Leu113Pro) variant of APOB (Apolipoprotein B-100)
L113P (p.Leu113Pro) in APOB (Apolipoprotein B-100) is a missense change. 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.
L113P (p.Leu113Pro) variant details
- p.Leu113Pro
- ExAC rs753318350
- gnomAD rs753318350
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.16
- MetaLR 0.14
- MetaSVM -0.83
- CADD 28.00
- PolyPhen-2 0.96
- SIFT 0.01
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available