C377Y (p.Cys377Tyr) variant of LDLR (Low-density lipoprotein receptor)
C377Y (p.Cys377Tyr) 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; Dyslipidemia; Familial hypercholesterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
C377Y (p.Cys377Tyr) variant details
- p.Cys377Tyr
- rs879254801
- ClinGen CA10585320
- ClinVar RCV000237613
- ClinVar RCV002321916
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Dyslipidemia; Familial hypercholesterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 0.95
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Dyslipidemia; Familial hypercholestero)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)