Y776S (p.Tyr776Ser) variant of LRP5 (O75197)
Y776S (p.Tyr776Ser) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
Y776S (p.Tyr776Ser) variant details
- p.Tyr776Ser
- gnomAD rs1482852595
- Likely pathogenic
- Osteoporosis with pseudoglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.93
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Osteoporosis with pseudoglioma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available