C121F (p.Cys121Phe) variant of LDLR (Low-density lipoprotein receptor)
C121F (p.Cys121Phe) 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 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.
C121F (p.Cys121Phe) variant details
- p.Cys121Phe
- rs193922571
- ClinGen CA10584876
- ClinVar RCV000238518
- ClinVar RCV006462199
- Pathogenic/Likely pathogenic
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- AlphaMissense 0.97
- MetaLR 1.00
- MetaSVM 0.91
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hypercholesterolemia, familial, 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)