D482H (p.Asp482His) variant of LDLR (Low-density lipoprotein receptor)
D482H (p.Asp482His) 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
D482H (p.Asp482His) variant details
- p.Asp482His
- rs139624145
- ClinGen CA10585454
- ClinVar RCV000238303
- ClinVar RCV005625479
- Likely pathogenic
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- AlphaMissense 0.97
- MetaLR 0.98
- MetaSVM 1.06
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hypercholesterolemia, familial, 1)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Cited in: Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary… (PMID 17142622)
- Cited in: Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia. (PMID 9259195)