L426P (p.Leu426Pro) variant of LDLR (Low-density lipoprotein receptor)
L426P (p.Leu426Pro) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypercholesterolemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
L426P (p.Leu426Pro) variant details
- p.Leu426Pro
- rs879254851
- ClinGen CA10585383
- ClinVar RCV000237865
- ClinVar RCV001350143
- Likely pathogenic
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- AlphaMissense 0.89
- MetaLR 0.83
- MetaSVM 0.88
- CADD 25.10
- PolyPhen-2 0.15
- SIFT 0.00
- ClinVar: Likely pathogenic (Hypercholesterolemia, familial, 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)