C329Y (p.Cys329Tyr) variant of LDLR (Low-density lipoprotein receptor)
C329Y (p.Cys329Tyr) 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 Dyslipidemia; Cardiovascular phenotype; Familial hypercholesterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
C329Y (p.Cys329Tyr) variant details
- p.Cys329Tyr
- rs761954844
- ClinGen CA031041
- ClinVar RCV000211666
- ClinVar RCV001293738
- Pathogenic/Likely pathogenic
- Dyslipidemia; Cardiovascular phenotype; Familial hypercholesterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 1.12
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Dyslipidemia; Cardiovascular phenotype; Familial hypercholestero)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Cited in: Possible common mutations in the low density lipoprotein receptor gene in Chinese. (PMID 9452118)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)