V429L (p.Val429Leu) variant of LDLR (Low-density lipoprotein receptor)
V429L (p.Val429Leu) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hypercholesterolemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
V429L (p.Val429Leu) variant details
- p.Val429Leu
- rs28942078
- ClinGen CA10585386
- ClinVar RCV000238117
- ClinVar RCV002519847
- Pathogenic
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- AlphaMissense 0.81
- MetaLR 0.85
- MetaSVM 0.88
- PolyPhen-2 0.11
- SIFT 0.02
- EVE 0.81
- ClinVar: Pathogenic (Hypercholesterolemia, familial, 1)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)