R494W (p.Arg494Trp) variant of LRP5 (O75197)
R494W (p.Arg494Trp) in LRP5 (O75197) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Osteoporosis with pseudoglioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
R494W (p.Arg494Trp) variant details
- p.Arg494Trp
- rs1270099780
- ClinGen CA381613062
- NCI-TCGA Cosmic COSV5371
- ClinVar RCV002244111
- Likely pathogenic
- not provided; Osteoporosis with pseudoglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.86
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Osteoporosis with pseudoglioma)
- EBI: Likely pathogenic (in OPPG)
- UniProt: Likely pathogenic (in OPPG)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available