C160Y (p.Cys160Tyr) variant of LRP4 (O75096)
C160Y (p.Cys160Tyr) 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.
C160Y (p.Cys160Tyr) variant details
- p.Cys160Tyr
- rs267607221
- ClinGen CA117686
- ClinVar RCV000006044
- UniProt VAR 063777
- Pathogenic
- Cenani-Lenz syndactyly syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.977
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.91
- 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: 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)