L15H (p.Leu15His) variant of LDLR (Low-density lipoprotein receptor)
L15H (p.Leu15His) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypercholesterolemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
L15H (p.Leu15His) variant details
- p.Leu15His
- rs879254390
- ClinGen CA10584731
- ClinVar RCV000238308
- Ensembl rs879254390
- Uncertain significance
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- AlphaMissense 0.38
- MetaLR 0.79
- MetaSVM 0.58
- PolyPhen-2 0.01
- SIFT 0.12
- MutPred 0.67
- ClinVar: Uncertain significance (Hypercholesterolemia, familial, 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)
- Cited in: Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance… (PMID 21600525)