D266N (p.Asp266Asn) variant of LDLR (Low-density lipoprotein receptor)
D266N (p.Asp266Asn) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hypercholesterolemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
D266N (p.Asp266Asn) variant details
- p.Asp266Asn
- rs875989907
- ClinGen CA10576288
- ClinVar RCV000211615
- ClinVar RCV001037156
- Conflicting interpretations
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.97
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hypercholesterolemia, familial, 1)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)