C306Y (p.Cys306Tyr) variant of LRP5 (O75197)
C306Y (p.Cys306Tyr) in LRP5 (O75197) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Exudative vitreoretinopathy 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes structural context.
C306Y (p.Cys306Tyr) variant details
- p.Cys306Tyr
- rs2098630548
- ClinGen CA381611413
- ClinVar RCV001170037
- Ensembl rs2098630548
- Likely pathogenic
- Exudative vitreoretinopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.933
- MutPred 0.93
- ClinVar: Likely pathogenic (Exudative vitreoretinopathy 4)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available