Y706C (p.Tyr706Cys) variant of NTRK2 (Q16620)
Y706C (p.Tyr706Cys) in NTRK2 (Q16620) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Obesity, hyperphagia, and developmental delay. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature.
Y706C (p.Tyr706Cys) variant details
- p.Tyr706Cys
- rs121434633
- ClinGen CA120116
- ClinVar RCV000009698
- UniProt VAR 065890
- Pathogenic
- Obesity, hyperphagia, and developmental delay
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- AlphaMissense 0.84
- MetaLR 0.69
- MetaSVM 0.51
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.88
- ClinVar: Pathogenic (Obesity, hyperphagia, and developmental delay)
- EBI: Pathogenic (in OBHD)
- UniProt: Pathogenic (in OBHD)
- Cited in: A de novo mutation affecting human TrkB associated with severe obesity and developmental delay. (PMID 15494731)
- Cited in: Diagnostic value of exome and whole genome sequencing in craniosynostosis. (PMID 27884935)