C1305Y (p.Cys1305Tyr) variant of LRP5 (O75197)
C1305Y (p.Cys1305Tyr) 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 1.00 / 1. The record also includes structural context.
C1305Y (p.Cys1305Tyr) variant details
- p.Cys1305Tyr
- rs2153178673
- ClinGen CA381613892
- NCI-TCGA Cosmic COSV5371
- ClinVar RCV001542591
- Likely pathogenic
- Exudative vitreoretinopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.997
- MutPred 1.00
- ClinVar: Likely pathogenic (Exudative vitreoretinopathy 4)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available