D36Y (p.Asp36Tyr) variant of LDLR (Low-density lipoprotein receptor)
D36Y (p.Asp36Tyr) 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 0.83 / 1. The record also includes published literature and structural context.
D36Y (p.Asp36Tyr) variant details
- p.Asp36Tyr
- rs2147210262
- ClinGen CA404074706
- ClinVar RCV002250090
- NCI-TCGA TCGA novel
- Pathogenic
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- AlphaMissense 0.69
- MetaLR 0.90
- MetaSVM 0.85
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Pathogenic (Hypercholesterolemia, familial, 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)
- Cited in: Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance… (PMID 21600525)