C325Y (p.Cys325Tyr) variant of LDLR (Low-density lipoprotein receptor)
C325Y (p.Cys325Tyr) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypercholesterolemia, familial, 1. 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.
C325Y (p.Cys325Tyr) variant details
- p.Cys325Tyr
- rs879254746
- ClinGen CA10585234
- ClinVar RCV000238286
- ClinVar RCV000588581
- Likely pathogenic
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.91
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hypercholesterolemia, familial, 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)