L37P (p.Leu37Pro) variant of APOB (Apolipoprotein B-100)
L37P (p.Leu37Pro) 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 0.09 / 1. The record also includes population frequency data and structural context.
L37P (p.Leu37Pro) variant details
- p.Leu37Pro
- ExAC rs749171742
- TOPMed rs749171742
- gnomAD rs749171742
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0935
- REVEL 0.03
- MetaLR 0.01
- MetaSVM -0.92
- CADD 8.75
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available