D221Y (p.Asp221Tyr) variant of LDLR (Low-density lipoprotein receptor)
D221Y (p.Asp221Tyr) 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 0.95 / 1. The record also includes published literature and structural context.
D221Y (p.Asp221Tyr) variant details
- p.Asp221Tyr
- rs875989906
- ClinGen CA10585046
- ClinVar RCV000237890
- ClinVar RCV001050137
- Pathogenic
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.95
- AlphaMissense 0.88
- MetaLR 0.98
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Pathogenic (Hypercholesterolemia, familial, 1)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Structural context available
- Cited in: Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial… (PMID 10206683)
- Cited in: Screening for mutations in exon 4 of the LDL receptor gene in a German population with severe hypercholesterolemia. (PMID 7649546)