S326C (p.Ser326Cys) variant of LDLR (Low-density lipoprotein receptor)
S326C (p.Ser326Cys) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hypercholesterolemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
S326C (p.Ser326Cys) variant details
- p.Ser326Cys
- rs879254747
- ClinGen CA10585235
- ClinVar RCV000237360
- ClinVar RCV001387171
- Pathogenic
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- AlphaMissense 0.88
- MetaLR 0.97
- MetaSVM 1.08
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Hypercholesterolemia, familial, 1)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Cited in: Presence and type of low density lipoprotein receptor (LDLR) mutation influences the lipid profile and response to… (PMID 24529145)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)