D69Y (p.Asp69Tyr) variant of LRP5 (O75197)
D69Y (p.Asp69Tyr) 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 0.76 / 1. The record also includes structural context.
D69Y (p.Asp69Tyr) variant details
- p.Asp69Tyr
- rs1057519574
- ClinGen CA16044353
- ClinVar RCV000417043
- Ensembl rs1057519574
- Likely pathogenic
- Osteoporosis with pseudoglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- MutPred 0.76
- ClinVar: Likely pathogenic (Osteoporosis with pseudoglioma)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available