S149F (p.Ser149Phe) variant of LRP4 (O75096)
S149F (p.Ser149Phe) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
S149F (p.Ser149Phe) variant details
- p.Ser149Phe
- rs1239578585
- ClinGen CA380289668
- ClinVar RCV001208727
- TOPMed rs1239578585
- Uncertain significance
- Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- AlphaMissense 0.83
- MetaLR 0.91
- MetaSVM 0.97
- PolyPhen-2 0.24
- SIFT 0.76
- MutPred 0.57
- 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)