D266G (p.Asp266Gly) variant of LDLR (Low-density lipoprotein receptor)
D266G (p.Asp266Gly) 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 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.
D266G (p.Asp266Gly) variant details
- p.Asp266Gly
- rs879254678
- ClinGen CA10585136
- ClinVar RCV000237457
- ClinVar RCV001229239
- Pathogenic/Likely pathogenic
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.972
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Pathogenic/Likely pathogenic (Familial hypercholesterolemia; not provided; Hypercholesterolemi)
- EBI: Likely pathogenic (in FHCL1)
- UniProt: Likely 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)