R108W (p.Arg108Trp) variant of LRP4 (O75096)
R108W (p.Arg108Trp) 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; Congenital myasthenic syndrome 17; Cenani-Lenz syndactyly syndr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R108W (p.Arg108Trp) variant details
- p.Arg108Trp
- rs775191643
- ClinGen CA5970532
- ClinVar RCV001220056
- ExAC rs775191643
- Uncertain significance
- Sclerosteosis 2; Congenital myasthenic syndrome 17; Cenani-Lenz syndactyly syndr
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- AlphaMissense 0.58
- MetaLR 0.87
- MetaSVM 0.87
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.43
- ClinVar: Uncertain significance (Sclerosteosis 2; Congenital myasthenic syndrome 17; Cenani-Lenz)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)