G171R (p.Gly171Arg) variant of LRP5 (O75197)
G171R (p.Gly171Arg) in LRP5 (O75197) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal dominant osteopetrosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
G171R (p.Gly171Arg) variant details
- p.Gly171Arg
- rs121908669
- ClinGen CA118096
- ClinVar RCV000006659
- UniProt VAR 021808
- Pathogenic
- Autosomal dominant osteopetrosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.933
- MutPred 0.93
- ClinVar: Pathogenic (Autosomal dominant osteopetrosis 1)
- EBI: Pathogenic (in OPTA1)
- UniProt: Pathogenic (in OPTA1)
- Structural context available
- Cited in: A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait. (PMID 11741193)
- Cited in: High bone density due to a mutation in LDL-receptor-related protein 5. (PMID 12015390)