P1026R (p.Pro1026Arg) variant of LRP5 (O75197)
P1026R (p.Pro1026Arg) 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 record also includes variant effect predictions, population frequency data, and structural context.
P1026R (p.Pro1026Arg) variant details
- p.Pro1026Arg
- rs201745746
- ClinGen CA381620664
- ClinVar RCV003222285
- 1000Genomes rs201745746
- Likely pathogenic
- Exudative vitreoretinopathy 4
- Missense
- MutPred 0.60
- ClinVar: Likely pathogenic (Exudative vitreoretinopathy 4)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available