E97A (p.Glu97Ala) variant of LRP4 (O75096)
E97A (p.Glu97Ala) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
E97A (p.Glu97Ala) variant details
- p.Glu97Ala
- rs766174802
- ClinGen CA5970557
- ClinVar RCV001107950
- ClinVar RCV002556112
- Uncertain significance
- Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- AlphaMissense 0.38
- MetaLR 0.82
- MetaSVM 0.72
- PolyPhen-2 0.98
- SIFT 0.02
- MutPred 0.54
- 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)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)