L12P (p.Leu12Pro) variant of APOB (Apolipoprotein B-100)
L12P (p.Leu12Pro) in APOB (Apolipoprotein B-100) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
L12P (p.Leu12Pro) variant details
- p.Leu12Pro
- rs758450840
- ClinGen CA43470283
- ClinVar RCV001141375
- ClinVar RCV001141376
- Conflicting interpretations
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.10
- MetaLR 0.02
- MetaSVM -0.95
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: APOB-Related Familial Hypobetalipoproteinemia. (PMID 33983694)