S158C (p.Ser158Cys) variant of LDLR (Low-density lipoprotein receptor)
S158C (p.Ser158Cys) 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 0.75 / 1. The record also includes published literature and structural context.
S158C (p.Ser158Cys) variant details
- p.Ser158Cys
- rs763998635
- ClinGen CA10584937
- ClinVar RCV000237942
- Ensembl rs763998635
- Pathogenic
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- AlphaMissense 0.60
- MetaLR 0.86
- MetaSVM 0.37
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic (Hypercholesterolemia, familial, 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)
- Cited in: Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance… (PMID 21600525)