M791V (p.Met791Val) variant of LRP5 (O75197)
M791V (p.Met791Val) in LRP5 (O75197) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Osteoporosis with pseudoglioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
M791V (p.Met791Val) variant details
- p.Met791Val
- rs1229615060
- ClinGen CA381616982
- ClinVar RCV003328514
- gnomAD rs1229615060
- Likely pathogenic
- Osteoporosis with pseudoglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.96
- AlphaMissense 0.55
- MetaLR 0.93
- MetaSVM 1.07
- CADD 25.60
- PolyPhen-2 0.91
- ClinVar: Likely pathogenic (Osteoporosis with pseudoglioma)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available