E180G (p.Glu180Gly) variant of LRP4 (O75096)
E180G (p.Glu180Gly) in LRP4 (O75096) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
E180G (p.Glu180Gly) variant details
- p.Glu180Gly
- rs201957426
- ClinGen CA5970472
- ClinVar RCV000643983
- ClinVar RCV001107295
- Conflicting interpretations
- Congenital myasthenic syndrome 17; Cenani-Lenz syndactyly syndrome; Sclerosteosi
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- AlphaMissense 0.12
- MetaLR 0.79
- MetaSVM 0.57
- PolyPhen-2 0.03
- SIFT 0.41
- ClinVar: Conflicting classifications of pathogenicity (Congenital myasthenic syndrome 17; Cenani-Lenz syndactyly syndro)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)