P3L (p.Pro3Leu) variant of APOB (Apolipoprotein B-100)
P3L (p.Pro3Leu) 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 Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
P3L (p.Pro3Leu) variant details
- p.Pro3Leu
- rs1448292619
- ClinGen CA345966469
- ClinVar RCV001141379
- ClinVar RCV001141380
- Uncertain significance
- Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.03
- MetaLR 0.01
- MetaSVM -0.99
- CADD 14.00
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autoso)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: APOB-Related Familial Hypobetalipoproteinemia. (PMID 33983694)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)