P107L (p.Pro107Leu) variant of APOB (Apolipoprotein B-100)
P107L (p.Pro107Leu) in APOB (Apolipoprotein B-100) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
P107L (p.Pro107Leu) variant details
- p.Pro107Leu
- rs1270615687
- ClinVar RCV004997864
- gnomAD rs1270615687
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.10
- MetaLR 0.03
- MetaSVM -1.06
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available