D54E (p.Asp54Glu) variant of LRP4 (O75096)
D54E (p.Asp54Glu) 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; Congenital myasthenic syndrome 17; Sclerosteosi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
D54E (p.Asp54Glu) variant details
- p.Asp54Glu
- rs745869587
- NCI-TCGA Cosmic COSV6613
- ClinGen CA5970598
- ClinVar RCV002654252
- Uncertain significance
- Cenani-Lenz syndactyly syndrome; Congenital myasthenic syndrome 17; Sclerosteosi
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- AlphaMissense 0.81
- MetaLR 0.72
- MetaSVM 0.21
- PolyPhen-2 0.13
- SIFT 0.34
- MutPred 0.51
- ClinVar: Uncertain significance (Cenani-Lenz syndactyly syndrome; Congenital myasthenic syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)