W10R (p.Trp10Arg) variant of LDLR (Low-density lipoprotein receptor)
W10R (p.Trp10Arg) 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; Hypercholesterolemia, f. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
W10R (p.Trp10Arg) variant details
- p.Trp10Arg
- rs879254386
- ClinGen CA10584725
- ClinVar RCV000237216
- Ensembl rs879254386
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Familial hypercholesterolemia; Hypercholesterolemia, f
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- AlphaMissense 0.55
- MetaLR 0.59
- MetaSVM -0.19
- PolyPhen-2 0.84
- SIFT 0.00
- MutPred 0.69
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Familial hypercholesterolemia; Hyperch)
- 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)