G58R (p.Gly58Arg) variant of LRP4 (O75096)
G58R (p.Gly58Arg) in LRP4 (O75096) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
G58R (p.Gly58Arg) variant details
- p.Gly58Arg
- rs139901577
- ESP rs139901577
- TOPMed rs139901577
- gnomAD rs139901577
- Uncertain significance
- Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- AlphaMissense 0.62
- MetaLR 0.85
- MetaSVM 0.61
- PolyPhen-2 0.99
- SIFT 0.52
- MutPred 0.47
- ClinVar: Uncertain significance (Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital mya)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)