R494Q (p.Arg494Gln) variant of LRP5 (O75197)
R494Q (p.Arg494Gln) 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; Worth disease; Exudative vitreoretinopathy 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R494Q (p.Arg494Gln) variant details
- p.Arg494Gln
- rs121908664
- ClinGen CA118089
- ClinVar RCV000006652
- ClinVar RCV000414333
- Pathogenic/Likely pathogenic
- Osteoporosis with pseudoglioma; Worth disease; Exudative vitreoretinopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.94
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Osteoporosis with pseudoglioma; Worth disease; Exudative vitreor)
- EBI: Pathogenic (in OPPG)
- UniProt: Pathogenic (in OPPG)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. (PMID 11719191)
- Cited in: Clinical and molecular findings in osteoporosis-pseudoglioma syndrome. (PMID 16252235)