D379A (p.Asp379Ala) variant of LRP5 (O75197)
D379A (p.Asp379Ala) 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 polycystic liver disease. The record also includes variant effect predictions and structural context.
D379A (p.Asp379Ala) variant details
- p.Asp379Ala
- rs2153153124
- ClinGen CA381612305
- ClinVar RCV001844900
- Ensembl rs2153153124
- Likely pathogenic
- Autosomal dominant polycystic liver disease
- Missense
- MutPred 0.69
- ClinVar: Likely pathogenic (Autosomal dominant polycystic liver disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available