D529N (p.Asp529Asn) variant of LRP4 (O75096)
D529N (p.Asp529Asn) 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 0.98 / 1. The record also includes population frequency data, published literature, and structural context.
D529N (p.Asp529Asn) variant details
- p.Asp529Asn
- rs267607220
- ClinGen CA117684
- ClinVar RCV000006040
- UniProt VAR 063781
- Pathogenic
- Cenani-Lenz syndactyly syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.982
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.93
- ClinVar: Pathogenic (Cenani-Lenz syndactyly syndrome)
- EBI: Pathogenic (in CLSS)
- UniProt: Pathogenic (in CLSS)
- Population evidence available
- Structural context available
- Cited in: A variant of Cenani-Lenz type syndactyly. (PMID 10756427)
- Cited in: LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome. (PMID 20381006)