D137N (p.Asp137Asn) variant of LRP4 (O75096)
D137N (p.Asp137Asn) in LRP4 (O75096) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Sclerosteosis 2; Cenani-Lenz syndactyly syndrome; Congenital myasthenic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes population frequency data, published literature, and structural context.
D137N (p.Asp137Asn) variant details
- p.Asp137Asn
- rs267607222
- ClinGen CA117685
- ClinVar RCV000006041
- ClinVar RCV002496277
- Likely pathogenic
- Sclerosteosis 2; Cenani-Lenz syndactyly syndrome; Congenital myasthenic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.943
- AlphaMissense 0.94
- MetaLR 0.96
- MetaSVM 1.08
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.80
- ClinVar: Likely pathogenic (Sclerosteosis 2; Cenani-Lenz syndactyly syndrome; Congenital mya)
- EBI: Pathogenic (in CLSS)
- UniProt: Pathogenic (in CLSS)
- Population evidence available
- Structural context available
- Cited in: Mild facial dysmorphism and quasidominant inheritance in Cenani-Lenz syndrome. (PMID 12868467)
- Cited in: LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome. (PMID 20381006)