C143F (p.Cys143Phe) variant of LDLR (Low-density lipoprotein receptor)
C143F (p.Cys143Phe) 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 Familial hypercholesterolemia; not provided; Hypercholesterolemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
C143F (p.Cys143Phe) variant details
- p.Cys143Phe
- rs879254522
- ClinGen CA404076416
- ClinVar RCV000627177
- ClinVar RCV003235315
- Likely pathogenic
- Familial hypercholesterolemia; not provided; Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- AlphaMissense 0.98
- MetaLR 1.00
- MetaSVM 0.91
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Familial hypercholesterolemia)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Population evidence available
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)