E1233A (p.Glu1233Ala) variant of LRP4 (O75096)
E1233A (p.Glu1233Ala) in LRP4 (O75096) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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 population frequency data and structural context.
E1233A (p.Glu1233Ala) variant details
- p.Glu1233Ala
- rs1940998166
- ClinGen CA380272911
- ClinVar RCV001814451
- ClinVar RCV002291761
- Pathogenic/Likely pathogenic
- Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- AlphaMissense 0.74
- MetaLR 0.60
- MetaSVM -0.05
- PolyPhen-2 0.03
- SIFT 0.16
- MutPred 0.55
- ClinVar: Pathogenic/Likely pathogenic (Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital mya)
- EBI: Pathogenic (in CMS17)
- UniProt: Pathogenic (in CMS17)
- Population evidence available
- Structural context available