E460K (p.Glu460Lys) variant of LRP5 (O75197)
E460K (p.Glu460Lys) 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; Worth disease; Bone mineral density quantitative trait locus 1. 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.
E460K (p.Glu460Lys) variant details
- p.Glu460Lys
- rs866606166
- ClinGen CA224252935
- NCI-TCGA Cosmic COSV9959
- ClinVar RCV002996387
- Likely pathogenic
- not provided; Worth disease; Bone mineral density quantitative trait locus 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.91
- CADD 25.10
- PolyPhen-2 0.93
- SIFT 0.03
- ClinVar: Likely pathogenic (not provided; Worth disease; Bone mineral density quantitative t)
- EBI: Pathogenic (in OPPG)
- UniProt: Pathogenic (in OPPG)
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)