C95F (p.Cys95Phe) variant of LDLR (Low-density lipoprotein receptor)
C95F (p.Cys95Phe) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Hypercholesterolemia, familial, 1; Familial hyperchole. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
C95F (p.Cys95Phe) variant details
- p.Cys95Phe
- rs879254457
- ClinGen CA10584827
- ClinVar RCV000237726
- ClinVar RCV000775029
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Hypercholesterolemia, familial, 1; Familial hyperchole
- Missense
- Variant Prioritization Score for Impact Estimate 0.965
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.92
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Hypercholesterolemia, familial, 1; Fam)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)