R353Q (p.Arg353Gln) variant of LRP5 (O75197)
R353Q (p.Arg353Gln) in LRP5 (O75197) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Osteoporosis with pseudoglioma; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R353Q (p.Arg353Gln) variant details
- p.Arg353Gln
- rs2153153067
- ClinGen CA381612147
- ClinVar RCV001728176
- ClinVar RCV003558852
- Pathogenic/Likely pathogenic
- Osteoporosis with pseudoglioma; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.88
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.08
- ClinVar: Pathogenic/Likely pathogenic (Osteoporosis with pseudoglioma; not provided)
- EBI: Pathogenic (in OPPG)
- UniProt: Pathogenic (in OPPG)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Clinical and molecular findings in osteoporosis-pseudoglioma syndrome. (PMID 16252235)
- Cited in: LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. (PMID 11719191)