L99P (p.Leu99Pro) variant of APOA1 (Apolipoprotein A-I)
L99P (p.Leu99Pro) in APOA1 (Apolipoprotein A-I) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; not provided; Hypoalphalipoproteinemia, primary, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
L99P (p.Leu99Pro) variant details
- p.Leu99Pro
- rs372520221
- ClinGen CA6289830
- ClinVar RCV001508676
- ClinVar RCV002439206
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; not provided; Hypoalphalipoproteinemia, primary, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.65
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; not provided; Hypoalphalipoproteinemia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available