R348W (p.Arg348Trp) variant of LRP5 (O75197)
R348W (p.Arg348Trp) in LRP5 (O75197) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial exudative vitreoretinopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R348W (p.Arg348Trp) variant details
- p.Arg348Trp
- rs1320065036
- UniProt VAR 063948
- TOPMed rs1320065036
- gnomAD rs1320065036
- Likely pathogenic
- Familial exudative vitreoretinopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.89
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Familial exudative vitreoretinopathy; not provided)
- EBI: Pathogenic (in OPPG and EVR1)
- UniProt: Pathogenic (in OPPG and EVR1)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Clinical and molecular findings in osteoporosis-pseudoglioma syndrome. (PMID 16252235)
- Cited in: Whole Exome Sequencing Analysis Identifies Mutations in LRP5 in Indian Families with Familial Exudative… (PMID 27228167)