C302Y (p.Cys302Tyr) variant of LDLR (Low-density lipoprotein receptor)
C302Y (p.Cys302Tyr) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypercholesterolemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
C302Y (p.Cys302Tyr) variant details
- p.Cys302Tyr
- rs879254715
- ClinGen CA10585186
- ClinVar RCV000237414
- ClinVar RCV001293735
- Likely pathogenic
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.93
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hypercholesterolemia, familial, 1)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Population evidence available
- Structural context available
- Cited in: Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial… (PMID 10206683)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)