L15P (p.Leu15Pro) variant of LDLR (Low-density lipoprotein receptor)
L15P (p.Leu15Pro) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
L15P (p.Leu15Pro) variant details
- p.Leu15Pro
- rs879254390
- ClinGen CA10584732
- ClinVar RCV000237294
- ClinVar RCV001062304
- Likely pathogenic
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- AlphaMissense 0.38
- MetaLR 0.79
- MetaSVM 0.58
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Likely pathogenic (Hypercholesterolemia, familial, 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)