C926Y (p.Cys926Tyr) variant of LRP5 (O75197)
C926Y (p.Cys926Tyr) in LRP5 (O75197) is a missense change. Clinical records from ClinVar 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 0.87 / 1. The record also includes population frequency data and structural context.
C926Y (p.Cys926Tyr) variant details
- p.Cys926Tyr
- NCI-TCGA Cosmic COSV5371
- Likely pathogenic
- Exudative vitreoretinopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.97
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Exudative vitreoretinopathy 4)
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available