C34G (p.Cys34Gly) variant of LDLR (Low-density lipoprotein receptor)
C34G (p.Cys34Gly) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Hypercholesterolemia, familial, 1; Familial hyperchole. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
C34G (p.Cys34Gly) variant details
- p.Cys34Gly
- rs879254405
- ClinGen CA10584752
- ClinVar RCV000237876
- ClinVar RCV001230907
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Hypercholesterolemia, familial, 1; Familial hyperchole
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Hypercholesterolemia, familial, 1; Fam)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)