C222R (p.Cys222Arg) variant of LDLR (Low-density lipoprotein receptor)
C222R (p.Cys222Arg) 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 Hypercholesterolemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
C222R (p.Cys222Arg) variant details
- p.Cys222Arg
- rs577934998
- ClinGen CA044260
- ClinVar RCV000211577
- ClinVar RCV000799446
- Likely pathogenic
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.92
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hypercholesterolemia, familial, 1)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)