Y375C (p.Tyr375Cys) variant of LDLR (Low-density lipoprotein receptor)
Y375C (p.Tyr375Cys) 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 LDLR-related disorder; Dyslipidemia; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
Y375C (p.Tyr375Cys) variant details
- p.Tyr375Cys
- rs879254800
- ClinGen CA10585318
- ClinVar RCV000237921
- ClinVar RCV001063149
- Pathogenic/Likely pathogenic
- LDLR-related disorder; Dyslipidemia; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- AlphaMissense 0.45
- MetaLR 0.92
- MetaSVM 0.94
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.85
- ClinVar: Pathogenic/Likely pathogenic (LDLR-related disorder; Dyslipidemia; Cardiovascular phenotype)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)