D172G (p.Asp172Gly) variant of LDLR (Low-density lipoprotein receptor)
D172G (p.Asp172Gly) 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 Cardiovascular phenotype; Familial hypercholesterolemia; Hypercholesterolemia, f. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
D172G (p.Asp172Gly) variant details
- p.Asp172Gly
- rs879254555
- ClinGen CA10584960
- ClinVar RCV000238439
- ClinVar RCV002338785
- Likely pathogenic
- Cardiovascular phenotype; Familial hypercholesterolemia; Hypercholesterolemia, f
- Missense
- Variant Prioritization Score for Impact Estimate 0.958
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Likely pathogenic (Cardiovascular phenotype; Familial hypercholesterolemia; Hyperch)
- 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)