G404R (p.Gly404Arg) variant of LRP5 (O75197)
G404R (p.Gly404Arg) in LRP5 (O75197) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal dominant osteopetrosis 1; Polycystic liver disease 4 with or without k. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G404R (p.Gly404Arg) variant details
- p.Gly404Arg
- rs750791263
- ClinGen CA6149271
- ClinVar RCV002046181
- ClinVar RCV005050530
- Likely pathogenic
- Autosomal dominant osteopetrosis 1; Polycystic liver disease 4 with or without k
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.95
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal dominant osteopetrosis 1; Polycystic liver disease 4 w)
- EBI: Pathogenic (in OPPG)
- UniProt: Pathogenic (in OPPG)
- Most common in the African/African-American population (allele frequency 3e-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)