C261F (p.Cys261Phe) variant of LDLR (Low-density lipoprotein receptor)
C261F (p.Cys261Phe) 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 Familial hypercholesterolemia; Hypercholesterolemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
C261F (p.Cys261Phe) variant details
- p.Cys261Phe
- rs121908040
- ClinGen CA023761
- ClinVar RCV000003938
- ClinVar RCV000776469
- Pathogenic/Likely pathogenic
- Familial hypercholesterolemia; Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Familial hypercholesterolemia; Hypercholesterolemia, familial, 1)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F). (PMID 10422803)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)