T461P (p.Thr461Pro) variant of LRP4 (O75096)
T461P (p.Thr461Pro) 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 0.43 / 1. The record also includes published literature and structural context.
T461P (p.Thr461Pro) variant details
- p.Thr461Pro
- rs267607223
- ClinGen CA117688
- ClinVar RCV000006046
- UniProt VAR 063779
- Pathogenic
- Cenani-Lenz syndactyly syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- AlphaMissense 0.25
- MetaLR 0.42
- MetaSVM -0.39
- PolyPhen-2 0.03
- SIFT 0.02
- MutPred 0.54
- ClinVar: Pathogenic (Cenani-Lenz syndactyly syndrome)
- EBI: Pathogenic (in CLSS)
- UniProt: Pathogenic (in CLSS)
- Structural context available
- Cited in: Cenani-Lenz syndactyly with facial dysmorphism, hypothyroidism, and renal hypoplasia: a case report. (PMID 18978656)
- Cited in: LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome. (PMID 20381006)