C340Y (p.Cys340Tyr) variant of LDLR (Low-density lipoprotein receptor)
C340Y (p.Cys340Tyr) 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 Homozygous familial hypercholesterolemia; Cardiovascular phenotype; Familial hyp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
C340Y (p.Cys340Tyr) variant details
- p.Cys340Tyr
- rs755757866
- ClinGen CA10585252
- ClinVar RCV000237709
- ClinVar RCV000775249
- Pathogenic/Likely pathogenic
- Homozygous familial hypercholesterolemia; Cardiovascular phenotype; Familial hyp
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Homozygous familial hypercholesterolemia; Cardiovascular phenoty)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)