D168Y (p.Asp168Tyr) variant of LDLR (Low-density lipoprotein receptor)
D168Y (p.Asp168Tyr) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial hypercholesterolemia; 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.
D168Y (p.Asp168Tyr) variant details
- p.Asp168Tyr
- rs200727689
- ClinGen CA10584951
- ClinVar RCV000237377
- ClinVar RCV002519840
- Pathogenic/Likely pathogenic
- Familial hypercholesterolemia; Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.974
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic/Likely pathogenic (Familial hypercholesterolemia; Hypercholesterolemia, familial, 1)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Structural context available
- Cited in: Two novel missense mutations in the LDL receptor gene causing familial hypercholesterolemia. (PMID 8740918)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)