N181D (p.Asn181Asp) variant of LRP4 (O75096)
N181D (p.Asn181Asp) in LRP4 (O75096) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital myasthenic syndrome 17; Cenani-Lenz syndactyly syndrome; Sclerosteosi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
N181D (p.Asn181Asp) variant details
- p.Asn181Asp
- rs1208569811
- ClinGen CA380289445
- ClinVar RCV001243289
- TOPMed rs1208569811
- Uncertain significance
- Congenital myasthenic syndrome 17; Cenani-Lenz syndactyly syndrome; Sclerosteosi
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- AlphaMissense 0.09
- MetaLR 0.63
- MetaSVM -0.51
- PolyPhen-2 0.00
- SIFT 0.51
- MutPred 0.52
- ClinVar: Uncertain significance (Congenital myasthenic syndrome 17; Cenani-Lenz syndactyly syndro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)