C1253Y (p.Cys1253Tyr) variant of LRP5 (O75197)
C1253Y (p.Cys1253Tyr) in LRP5 (O75197) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Postmenopausal osteoporosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes structural context.
C1253Y (p.Cys1253Tyr) variant details
- p.Cys1253Tyr
- rs768615287
- ClinGen CA381613492
- NCI-TCGA Cosmic COSV5372
- NCI-TCGA Cosmic COSV9959
- Likely pathogenic
- Postmenopausal osteoporosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- MutPred 0.79
- ClinVar: Likely pathogenic (Postmenopausal osteoporosis)
- EBI: Likely pathogenic (in EVR4)
- UniProt: Likely pathogenic (in EVR4)
- Structural context available