T704I (p.Thr704Ile) variant of NTRK2 (Q16620)
T704I (p.Thr704Ile) 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 0.63 / 1. The record also includes published literature.
T704I (p.Thr704Ile) variant details
- p.Thr704Ile
- rs1554774973
- ClinGen CA374010383
- ClinVar RCV000577832
- UniProt VAR 080661
- Pathogenic
- Obesity, hyperphagia, and developmental delay
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- AlphaMissense 0.97
- MetaLR 0.66
- MetaSVM 0.16
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.62
- ClinVar: Pathogenic (Obesity, hyperphagia, and developmental delay)
- EBI: Pathogenic (in OBHD)
- UniProt: Pathogenic (in OBHD)
- Cited in: High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. (PMID 29100083)
- Cited in: A de novo mutation affecting human TrkB associated with severe obesity and developmental delay. (PMID 15494731)