C134R (p.Cys134Arg) variant of LDLR (Low-density lipoprotein receptor)
C134R (p.Cys134Arg) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Homozygous familial hypercholesterolemia; Cardiovascular phenotype; Familial hyp. 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.
C134R (p.Cys134Arg) variant details
- p.Cys134Arg
- rs875989900
- ClinGen CA10576281
- ClinVar RCV000211566
- ClinVar RCV000494460
- Conflicting interpretations
- Homozygous familial hypercholesterolemia; Cardiovascular phenotype; Familial hyp
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.90
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Familial hypercholesterolemia; not provided)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)