R86P (p.Arg86Pro) variant of LRP4 (O75096)
R86P (p.Arg86Pro) in LRP4 (O75096) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Sclerosteosis 2; Cenani-Lenz syndactyly syndrome. The record also includes population frequency data and structural context.
R86P (p.Arg86Pro) variant details
- p.Arg86Pro
- ESP rs138239756
- ExAC rs138239756
- TOPMed rs138239756
- gnomAD rs138239756
- Uncertain significance
- not provided; Sclerosteosis 2; Cenani-Lenz syndactyly syndrome
- Missense
- ClinVar: Uncertain significance (not provided; Sclerosteosis 2; Cenani-Lenz syndactyly syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available