E163D (p.Glu163Asp) variant of LRP4 (O75096)
E163D (p.Glu163Asp) 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 0.54 / 1. The record also includes published literature and structural context.
E163D (p.Glu163Asp) variant details
- p.Glu163Asp
- rs1941618309
- ClinGen CA380289569
- ClinVar RCV001974320
- Ensembl rs1941618309
- Uncertain significance
- Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- AlphaMissense 0.28
- MetaLR 0.67
- MetaSVM -0.09
- PolyPhen-2 0.03
- SIFT 0.61
- MutPred 0.49
- ClinVar: Uncertain significance (Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital mya)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)