D221G (p.Asp221Gly) variant of LDLR (Low-density lipoprotein receptor)
D221G (p.Asp221Gly) 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 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
D221G (p.Asp221Gly) variant details
- p.Asp221Gly
- rs373822756
- ClinGen CA023739
- ClinVar RCV000161962
- ClinVar RCV000211655
- Pathogenic
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.99
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Hypercholesterolemia, familial, 1)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial… (PMID 10206683)
- Cited in: Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary… (PMID 17142622)