V429M (p.Val429Met) variant of LDLR (Low-density lipoprotein receptor)
V429M (p.Val429Met) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
V429M (p.Val429Met) variant details
- p.Val429Met
- rs28942078
- ClinGen CA023443
- cosmic curated COSV52944
- ClinVar RCV000003882
- Pathogenic
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- AlphaMissense 0.81
- MetaLR 0.85
- MetaSVM 0.88
- CADD 25.30
- PolyPhen-2 0.11
- SIFT 0.02
- ClinVar: Pathogenic (Hypercholesterolemia, familial, 1)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: The molecular basis and diagnosis of familial hypercholesterolaemia in South African Afrikaners. (PMID 1952806)
- Cited in: Presence and type of low density lipoprotein receptor (LDLR) mutation influences the lipid profile and response to… (PMID 24529145)