C82S (p.Cys82Ser) variant of LDLR (Low-density lipoprotein receptor)
C82S (p.Cys82Ser) 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 Dyslipidemia; Familial hypercholesterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
C82S (p.Cys82Ser) variant details
- p.Cys82Ser
- rs879254448
- ClinGen CA404075605
- ClinVar RCV000497224
- ClinVar RCV005404622
- Likely pathogenic
- Dyslipidemia; Familial hypercholesterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Likely pathogenic (Dyslipidemia; Familial hypercholesterolemia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)