Q48R (p.Gln48Arg) variant of LRP4 (O75096)
Q48R (p.Gln48Arg) in LRP4 (O75096) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Sclerosteosis 2; Cenani-Lenz syndactyly syndrome; Congenital myasthenic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
Q48R (p.Gln48Arg) variant details
- p.Gln48Arg
- rs1309344878
- ClinGen CA380291119
- ClinVar RCV003801571
- Uncertain significance
- Sclerosteosis 2; Cenani-Lenz syndactyly syndrome; Congenital myasthenic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- AlphaMissense 0.12
- MetaLR 0.82
- MetaSVM 0.72
- PolyPhen-2 0.86
- SIFT 0.10
- MutPred 0.53
- ClinVar: Uncertain significance (Sclerosteosis 2; Cenani-Lenz syndactyly syndrome; Congenital mya)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)