R50L (p.Arg50Leu) variant of APOB (Apolipoprotein B-100)
R50L (p.Arg50Leu) in APOB (Apolipoprotein B-100) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R50L (p.Arg50Leu) variant details
- p.Arg50Leu
- TOPMed rs1465696669
- gnomAD rs1465696669
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.35
- MetaLR 0.26
- MetaSVM -0.51
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available