D381G (p.Asp381Gly) variant of LRP5 (O75197)
D381G (p.Asp381Gly) 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 record also includes variant effect predictions and structural context.
D381G (p.Asp381Gly) variant details
- p.Asp381Gly
- rs886040977
- ClinGen CA10602481
- NCI-TCGA Cosmic COSV5372
- ClinVar RCV000258126
- Likely pathogenic
- Osteoporosis with pseudoglioma
- Missense
- MutPred 0.67
- ClinVar: Likely pathogenic (Osteoporosis with pseudoglioma)
- EBI: Likely pathogenic (in EVR1)
- UniProt: Likely pathogenic (in EVR1)
- Structural context available