C313Y (p.Cys313Tyr) variant of LDLR (Low-density lipoprotein receptor)
C313Y (p.Cys313Tyr) 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 not provided; Hypercholesterolemia, familial, 1; Homozygous familial hypercholes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
C313Y (p.Cys313Tyr) variant details
- p.Cys313Tyr
- rs875989910
- ClinGen CA10576293
- ClinVar RCV000211591
- ClinVar RCV000493281
- Pathogenic/Likely pathogenic
- not provided; Hypercholesterolemia, familial, 1; Homozygous familial hypercholes
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hypercholesterolemia, familial, 1; Homozygous fami)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia. (PMID 9259195)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)