D449N (p.Asp449Asn) variant of LRP4 (O75096)
D449N (p.Asp449Asn) in LRP4 (O75096) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cenani-Lenz syndactyly syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
D449N (p.Asp449Asn) variant details
- p.Asp449Asn
- rs267607224
- ClinGen CA117687
- ClinVar RCV000006045
- UniProt VAR 063778
- Pathogenic
- Cenani-Lenz syndactyly syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- AlphaMissense 0.96
- MetaLR 0.78
- MetaSVM 0.69
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Cenani-Lenz syndactyly syndrome)
- EBI: Pathogenic (in CLSS)
- UniProt: Pathogenic (in CLSS)
- Population evidence available
- Structural context available
- Cited in: Two unusual types of syndactyly in the same family; Cenani-Lenz type and "new" type versus severe type I syndactyly? (PMID 14577675)
- Cited in: LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome. (PMID 20381006)