D482N (p.Asp482Asn) variant of LDLR (Low-density lipoprotein receptor)
D482N (p.Asp482Asn) 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
D482N (p.Asp482Asn) variant details
- p.Asp482Asn
- rs139624145
- ClinGen CA023502
- cosmic curated COSV10500
- ClinVar RCV000172963
- 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: Pathogenic (Hypercholesterolemia, familial, 1)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)