Q660H (p.Gln660His) variant of LDLR (Low-density lipoprotein receptor)
Q660H (p.Gln660His) 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 Dyslipidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
Q660H (p.Gln660His) variant details
- p.Gln660His
- rs1382517876
- ClinGen CA404093321
- ClinVar RCV002227547
- ClinVar RCV003163918
- Likely pathogenic
- Dyslipidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- AlphaMissense 0.91
- MetaLR 0.83
- MetaSVM 0.73
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.93
- ClinVar: Likely pathogenic (Dyslipidemia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)