L145F (p.Leu145Phe) variant of LRP5 (O75197)
L145F (p.Leu145Phe) in LRP5 (O75197) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Exudative vitreoretinopathy 4, autosomal dominant; Osteoporosis with pseudogliom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
L145F (p.Leu145Phe) variant details
- p.Leu145Phe
- rs80358305
- ClinGen CA118107
- ClinVar RCV000006672
- ClinVar RCV000033256
- Pathogenic
- Exudative vitreoretinopathy 4, autosomal dominant; Osteoporosis with pseudogliom
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.85
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Exudative vitreoretinopathy 4, autosomal dominant; Osteoporosis)
- EBI: Pathogenic (in EVR4)
- UniProt: Pathogenic (in EVR4)
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Cited in: Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5… (PMID 15981244)
- Cited in: Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: identification of a 7.2-kb… (PMID 20034086)