M1V (p.Met1Val) variant of LRP5 (O75197)
M1V (p.Met1Val) in LRP5 (O75197) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Osteogenesis imperfecta. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs2153110162
- ClinGen CA381607176
- ClinVar RCV002277797
- ClinVar RCV003546748
- Pathogenic/Likely pathogenic
- not provided; Osteogenesis imperfecta
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- MutPred 0.89
- ClinVar: Pathogenic/Likely pathogenic (not provided; Osteogenesis imperfecta)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)