T852M (p.Thr852Met) variant of LRP5 (O75197)
T852M (p.Thr852Met) in LRP5 (O75197) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Bone mineral density quantitative trait locus 1; Worth disease; Autosomal domina. 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.
T852M (p.Thr852Met) variant details
- p.Thr852Met
- rs1398692057
- ClinGen CA381618261
- ClinVar RCV001536018
- ClinVar RCV001882600
- Pathogenic/Likely pathogenic
- Bone mineral density quantitative trait locus 1; Worth disease; Autosomal domina
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.86
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Bone mineral density quantitative trait locus 1; Worth disease;)
- EBI: Pathogenic (in EVR4)
- UniProt: Pathogenic (in EVR4)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Identification of two novel LRP5 mutations in families with familial exudative vitreoretinopathy. (PMID 24715757)
- Cited in: Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. (PMID 15024691)