L11P (p.Leu11Pro) variant of APOB (Apolipoprotein B-100)
L11P (p.Leu11Pro) 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 Cardiovascular phenotype; not provided; Hypercholesterolemia, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
L11P (p.Leu11Pro) variant details
- p.Leu11Pro
- rs2465464174
- ClinGen CA345966288
- ClinVar RCV004525470
- ClinVar RCV006259572
- Uncertain significance
- Cardiovascular phenotype; not provided; Hypercholesterolemia, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.06
- MetaLR 0.01
- MetaSVM -0.94
- CADD 15.50
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Hypercholesterolemia, au)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: APOB-Related Familial Hypobetalipoproteinemia. (PMID 33983694)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)