D90E (p.Asp90Glu) variant of LDLR (Low-density lipoprotein receptor)
D90E (p.Asp90Glu) 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 0.97 / 1. The record also includes published literature and structural context.
D90E (p.Asp90Glu) variant details
- p.Asp90Glu
- rs372828849
- ClinGen CA10584821
- ClinVar RCV000238563
- ClinVar RCV001057934
- Likely pathogenic
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.965
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.91
- ClinVar: Likely pathogenic (Familial hypercholesterolemia)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)