C216Y (p.Cys216Tyr) variant of LDLR (Low-density lipoprotein receptor)
C216Y (p.Cys216Tyr) 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; Familial hypercholesterolemia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
C216Y (p.Cys216Tyr) variant details
- p.Cys216Tyr
- rs879254611
- ClinGen CA10585035
- ClinVar RCV000237153
- ClinVar RCV000791421
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Familial hypercholesterolemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.91
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Familial hypercholesterolemia; not pro)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)